Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_29900
Here is a variant affecting FOXP3 (forkhead box P3) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCCTGCCACATGGCGAAGGATGCTTTGGGTAGAGGGAACACCACACGAGGCCTGGCCATGGGACAGAGCAGGCTGTTGGAGTTGGTGGGAGGGGCCCAGAGTGGCTGTGATGGGGGCTGGTGAGCAGGAGCTGGGAAAGGGGCTGTGTGTGCTGAGGGGGCATGTGTTCACATTGCCTCAGATCGAGACAGAGCTGGGCAAGAAGACCCTCAGCAACCTGGAGAAGATCCGGGAGGACTACCGAGCCCTCCGCCAGGAGAACGCTGGCCTCCTAGGCCGGGTCCGGGAGGCCTGAGGAGCCGCCGGCAGAGGTCTCTCCCCAGCCTCAGGCAGGGATTTGGGGTGCTGGAGGCAGTGGCCAAGCACATGCCCTAGCTACTTCCTCCGCTGTCCAGTTCCTCCTGCTGCGGCCTTGGACCCAGACCCCTGCCCACTGACCGCAACCCTTATATGGGGTGATAGTCCAGCATGTGGGGAGCTCGGCTGCAGTTTATTGGGGACGGTACTGTGGGTTGGGGGCCTTGGATCCCAAATAAATGAGTAGTTCCTCTGCAGTCTAAGCTGAGGCATGGATCAGGGCTCAGGGAATGGGAGTGAGGTGAGTGGCAGGGGAGACACGGGGTATTTTTGGCAAGGCAGTGTGTGTGGCTGTGTGTGTCTGCACGGGACTCAAGAGACCCACTGGGGGGCTGTGCGTGTGCATATGCGTGAGATACACAGGTGAATTCTAACAGGCCGTGTGTGTGAGCGAGCACGTGTTGGGACCTCAGATCCTGAGGGTACTGACGCTGCTTCTGTGTAGGCCTCTGGGCACACCCCTGTGTTGACAGTGCCCCTGTGGGCCCTGAGGCTGGCTGTGGGTGCGTGCCTTGGGGTGTGTGGGTTGTCAGGGCTGTGCTTGTGTGTGATTGTGTGATGATGCAGCTTTGAGGTTGTTTGAGTGTACTGAGGCAGGCTCTCTGTGTTTTGGGGTTTGTGTTGAGTGAGGGACAGGATTGTGACATTTTGTGTGTCTGTGTGACTTTTCCAGCCCTGAAGTAATCTGTGCGAGCAGCTGAGGCAGGCTCTGTGTGGCTGGTTGTGAAGGCTCTGTTTGGCTGCAGGGCTCGACTGGGGGGTGTGTCTGGGGCGGAGGTGGGGGCTGGGGCCAGGACCGGGGCCCCTCTGAGCAGCCTTGGGGCAAAGGATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTGGCGGATGGCGTTCTGTGGAAGGCCGGGGACAGGGAGCAGGTGGGCGTCAACCTCTGAGGCCAGCAGCCACCACCAACAACCCACATCCCGTTCCTCCCCAATGTGCCTATGAGCCCAGACCCAGGCCTGCCCACTTTGAGCTGCGATGGCACTTGAGGCCATCCCAGTCACCGCCACCTCAGAGGAGCTCACCTTCCAGGTGGCAGGATGGTTTCTGAAGAAGGCAAACATGCGTGTGAACCAGTGGTAGATCTCATTGAGTGTCCGCTGCTTCTCTGGAGCCTCCAGGATGGCCTGGAAGTTGGGGGGTGGGGTAAGGGGCACATTCCCCAAACTTGGGGTTTAGAGGGGCTATGACCTACCCCGAGCCATCTGACATGGGGGCGGAATTGTAGGGGCAGGTAATCAGGGACAGGACTAGATGTGGGGTGAAGCATGGGGTCAAAGATGGGGTTAGAAAAGGGGTGAAGTGTCGGGTTGGGCAGGGTTAGATGGGTGTGGGTATGGTTGTTCTGGGATTAGGTAAGGGATCAGGACTGAGGTTGGGAGTGGGGTCTTGTTCAGGGCTAGGGCTGAAGTGAGGTGAAAGGTCTGGGATGGAGTTGGAGTTGGGGTTCTCTGTGGAGGTGACATTTCAGGGTTGGGGAAGGTGAAGGGTCAGAAGTGGGGTCAAGGATTTGGAAGGGGTAAAGGGCCAGGCCAACTTAAGGGTCAGGGAAGGGGTGGGTTAAGAGTCAGGCTGGGGTGGACTCAGGTGGGGGGTCTAGGGGTGAGGGATGGGATGACTTGGCTTTAGGTCAGAAGCCAGAGATGGTTTGAATTATCGAGTATCTTACGTGTCAGGGACATGGTTAGGTGGTTAGGCTCAGGGCAAGGATGAGGTTAGTTGTGGGGTTCGGTGTGGAGTGAGGCTGAGGGTCAGGGAATTTGATCAGTTTGGATTCAGGAATGGGATTACAGAGTCAGCGATGATGATTGCAGTGAGGCTATCAGTCAGGATGGGGCTAGGTCAGGGTTTCAGTTCAGAGACAGTCGGGGAATATCTGGTATCATGTAGGGGTGAGGTTCAGGTTTGGGGTTAGGTGTGGCGCTAGGATGAAGGTTCTGAGAAGGCATTGGGGAGGCTGAGATGAAGGAGTTGGGATGGGGTGATGAAGTTAAGGATCAAATGGGTGTTACAAGGAAAGGTTGGGAATGGTGCCCAGTTGGGGGTGTATTGACATACTGGGGTACGTTGGGGCCAGGGAAGGAGATGGGGTTGGGTTGGCATAAAGGCTGGGGAAGGAGTTAGAGTAAGAGCTGGGGTACGTTTAGGGCAAGGTGCAGAGATGGGGTTAGCTTTAGGCTATTTTATGGGTCCAGGAGAGGGTTAGGTATGGGGCTGAGGTGGACATCTGGAAAGGGGTAGGTTTAGGGTCAGAATTTGGCATGCTCTGGCCTGGATGGTGGTTTAGGTTTGGATTTGCGGACAGGTTTGGGGTGAAGCCAGCATGAGGGGTCACATTTGAGGCACGGCTTGGGGATCCTTGGGGCTGGGGCTTGGGAATGGAGGAACCCACTCTGAGGGCACTCAGAGGGAGACAGGAGTTTGGGAGGCAGGTCCCCCACCCCATCTTTGTCTTCCTCCTCCTTGGGGCCGAGCTGCCCTGCTTACCCAGCGGATGAGCGTGGCGTAGGTGAAAGGGGGTCGCATGTTGTGGAACTTGAAGTAGTCCATGTTGTGGAGGAACTCTGTCAGAGGGTGGGGATGAATCAAGCCCCATGCAGGACCTCCTAGCTAGCTCCCTGTCCCCTCCCCCTACAAGGTGAGTCTACAGGCCTGAGATCTCACCGTCAACACCCGTGTCCACGGGCACAGGTACTGTTTGCTGAGCACCTGACATAAGTTGTATCATTTATTCTTTGCACCACTTCTGCCAAAATAGTTCTCCCCGAGGTTGAAAAGAAGCGGAGTAACTTGCACACCAAAGGATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGC
CTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCCTGCCACATGGCGAAGGATGCTTTGGGTAGAGGGAACACCACACGAGGCCTGGCCATGGGACAGAGCAGGCTGTTGGAGTTGGTGGGAGGGGCCCAGAGTGGCTGTGATGGGGGCTGGTGAGCAGGAGCTGGGAAAGGGGCTGTGTGTGCTGAGGGGGCATGTGTTCACATTGCCTCAGATCGAGACAGAGCTGGGCAAGAAGACCCTCAGCAACCTGGAGAAGATCCGGGAGGACTACCGAGCCCTCCGCCAGGAGAACGCTGGCCTCCTAGGCCGGGTCCGGGAGGCCTGAGGAGCCGCCGGCAGAGGTCTCTCCCCAGCCTCAGGCAGGGATTTGGGGTGCTGGAGGCAGTGGCCAAGCACATGCCCTAGCTACTTCCTCCGCTGTCCAGTTCCTCCTGCTGCGGCCTTGGACCCAGACCCCTGCCCACTGACCGCAACCCTTATATGGGGTGATAGTCCAGCATGTGGGGAGCTCGGCTGCAGTTTATTGGGGACGGTACTGTGGGTTGGGGGCCTTGGATCCCAAATAAATGAGTAGTTCCTCTGCAGTCTAAGCTGAGGCATGGATCAGGGCTCAGGGAATGGGAGTGAGGTGAGTGGCAGGGGAGACACGGGGTATTTTTGGCAAGGCAGTGTGTGTGGCTGTGTGTGTCTGCACGGGACTCAAGAGACCCACTGGGGGGCTGTGCGTGTGCATATGCGTGAGATACACAGGTGAATTCTAACAGGCCGTGTGTGTGAGCGAGCACGTGTTGGGACCTCAGATCCTGAGGGTACTGACGCTGCTTCTGTGTAGGCCTCTGGGCACACCCCTGTGTTGACAGTGCCCCTGTGGGCCCTGAGGCTGGCTGTGGGTGCGTGCCTTGGGGTGTGTGGGTTGTCAGGGCTGTGCTTGTGTGTGATTGTGTGATGATGCAGCTTTGAGGTTGTTTGAGTGTACTGAGGCAGGCTCTCTGTGTTTTGGGGTTTGTGTTGAGTGAGGGACAGGATTGTGACATTTTGTGTGTCTGTGTGACTTTTCCAGCCCTGAAGTAATCTGTGCGAGCAGCTGAGGCAGGCTCTGTGTGGCTGGTTGTGAAGGCTCTGTTTGGCTGCAGGGCTCGACTGGGGGGTGTGTCTGGGGCGGAGGTGGGGGCTGGGGCCAGGACCGGGGCCCCTCTGAGCAGCCTTGGGGCAAAGGATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTGGCGGATGGCGTTCTGTGGAAGGCCGGGGACAGGGAGCAGGTGGGCGTCAACCTCTGAGGCCAGCAGCCACCACCAACAACCCACATCCCGTTCCTCCCCAATGTGCCTATGAGCCCAGACCCAGGCCTGCCCACTTTGAGCTGCGATGGCACTTGAGGCCATCCCAGTCACCGCCACCTCAGAGGAGCTCACCTTCCAGGTGGCAGGATGGTTTCTGAAGAAGGCAAACATGCGTGTGAGCCAGTGGTAGATCTCATTGAGTGTCCGCTGCTTCTCTGGAGCCTCCAGGATGGCCTGGAAGTTGGGGGGTGGGGTAAGGGGCACATTCCCCAAACTTGGGGTTTAGAGGGGCTATGACCTACCCCGAGCCATCTGACATGGGGGCGGAATTGTAGGGGCAGGTAATCAGGGACAGGACTAGATGTGGGGTGAAGCATGGGGTCAAAGATGGGGTTAGAAAAGGGGTGAAGTGTCGGGTTGGGCAGGGTTAGATGGGTGTGGGTATGGTTGTTCTGGGATTAGGTAAGGGATCAGGACTGAGGTTGGGAGTGGGGTCTTGTTCAGGGCTAGGGCTGAAGTGAGGTGAAAGGTCTGGGATGGAGTTGGAGTTGGGGTTCTCTGTGGAGGTGACATTTCAGGGTTGGGGAAGGTGAAGGGTCAGAAGTGGGGTCAAGGATTTGGAAGGGGTAAAGGGCCAGGCCAACTTAAGGGTCAGGGAAGGGGTGGGTTAAGAGTCAGGCTGGGGTGGACTCAGGTGGGGGGTCTAGGGGTGAGGGATGGGATGACTTGGCTTTAGGTCAGAAGCCAGAGATGGTTTGAATTATCGAGTATCTTACGTGTCAGGGACATGGTTAGGTGGTTAGGCTCAGGGCAAGGATGAGGTTAGTTGTGGGGTTCGGTGTGGAGTGAGGCTGAGGGTCAGGGAATTTGATCAGTTTGGATTCAGGAATGGGATTACAGAGTCAGCGATGATGATTGCAGTGAGGCTATCAGTCAGGATGGGGCTAGGTCAGGGTTTCAGTTCAGAGACAGTCGGGGAATATCTGGTATCATGTAGGGGTGAGGTTCAGGTTTGGGGTTAGGTGTGGCGCTAGGATGAAGGTTCTGAGAAGGCATTGGGGAGGCTGAGATGAAGGAGTTGGGATGGGGTGATGAAGTTAAGGATCAAATGGGTGTTACAAGGAAAGGTTGGGAATGGTGCCCAGTTGGGGGTGTATTGACATACTGGGGTACGTTGGGGCCAGGGAAGGAGATGGGGTTGGGTTGGCATAAAGGCTGGGGAAGGAGTTAGAGTAAGAGCTGGGGTACGTTTAGGGCAAGGTGCAGAGATGGGGTTAGCTTTAGGCTATTTTATGGGTCCAGGAGAGGGTTAGGTATGGGGCTGAGGTGGACATCTGGAAAGGGGTAGGTTTAGGGTCAGAATTTGGCATGCTCTGGCCTGGATGGTGGTTTAGGTTTGGATTTGCGGACAGGTTTGGGGTGAAGCCAGCATGAGGGGTCACATTTGAGGCACGGCTTGGGGATCCTTGGGGCTGGGGCTTGGGAATGGAGGAACCCACTCTGAGGGCACTCAGAGGGAGACAGGAGTTTGGGAGGCAGGTCCCCCACCCCATCTTTGTCTTCCTCCTCCTTGGGGCCGAGCTGCCCTGCTTACCCAGCGGATGAGCGTGGCGTAGGTGAAAGGGGGTCGCATGTTGTGGAACTTGAAGTAGTCCATGTTGTGGAGGAACTCTGTCAGAGGGTGGGGATGAATCAAGCCCCATGCAGGACCTCCTAGCTAGCTCCCTGTCCCCTCCCCCTACAAGGTGAGTCTACAGGCCTGAGATCTCACCGTCAACACCCGTGTCCACGGGCACAGGTACTGTTTGCTGAGCACCTGACATAAGTTGTATCATTTATTCTTTGCACCACTTCTGCCAAAATAGTTCTCCCCGAGGTTGAAAAGAAGCGGAGTAACTTGCACACCAAAGGATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGC
Task1_train_29901
The following genetic variant occurs in FOXP3 (forkhead box P3) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
GATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTGGCGGATGGCGTTCTGTGGAAGGCCGGGGACAGGGAGCAGGTGGGCGTCAACCTCTGAGGCCAGCAGCCACCACCAACAACCCACATCCCGTTCCTCCCCAATGTGCCTATGAGCCCAGACCCAGGCCTGCCCACTTTGAGCTGCGATGGCACTTGAGGCCATCCCAGTCACCGCCACCTCAGAGGAGCTCACCTTCCAGGTGGCAGGATGGTTTCTGAAGAAGGCAAACATGCGTGTGAACCAGTGGTAGATCTCATTGAGTGTCCGCTGCTTCTCTGGAGCCTCCAGGATGGCCTGGAAGTTGGGGGGTGGGGTAAGGGGCACATTCCCCAAACTTGGGGTTTAGAGGGGCTATGACCTACCCCGAGCCATCTGACATGGGGGCGGAATTGTAGGGGCAGGTAATCAGGGACAGGACTAGATGTGGGGTGAAGCATGGGGTCAAAGATGGGGTTAGAAAAGGGGTGAAGTGTCGGGTTGGGCAGGGTTAGATGGGTGTGGGTATGGTTGTTCTGGGATTAGGTAAGGGATCAGGACTGAGGTTGGGAGTGGGGTCTTGTTCAGGGCTAGGGCTGAAGTGAGGTGAAAGGTCTGGGATGGAGTTGGAGTTGGGGTTCTCTGTGGAGGTGACATTTCAGGGTTGGGGAAGGTGAAGGGTCAGAAGTGGGGTCAAGGATTTGGAAGGGGTAAAGGGCCAGGCCAACTTAAGGGTCAGGGAAGGGGTGGGTTAAGAGTCAGGCTGGGGTGGACTCAGGTGGGGGGTCTAGGGGTGAGGGATGGGATGACTTGGCTTTAGGTCAGAAGCCAGAGATGGTTTGAATTATCGAGTATCTTACGTGTCAGGGACATGGTTAGGTGGTTAGGCTCAGGGCAAGGATGAGGTTAGTTGTGGGGTTCGGTGTGGAGTGAGGCTGAGGGTCAGGGAATTTGATCAGTTTGGATTCAGGAATGGGATTACAGAGTCAGCGATGATGATTGCAGTGAGGCTATCAGTCAGGATGGGGCTAGGTCAGGGTTTCAGTTCAGAGACAGTCGGGGAATATCTGGTATCATGTAGGGGTGAGGTTCAGGTTTGGGGTTAGGTGTGGCGCTAGGATGAAGGTTCTGAGAAGGCATTGGGGAGGCTGAGATGAAGGAGTTGGGATGGGGTGATGAAGTTAAGGATCAAATGGGTGTTACAAGGAAAGGTTGGGAATGGTGCCCAGTTGGGGGTGTATTGACATACTGGGGTACGTTGGGGCCAGGGAAGGAGATGGGGTTGGGTTGGCATAAAGGCTGGGGAAGGAGTTAGAGTAAGAGCTGGGGTACGTTTAGGGCAAGGTGCAGAGATGGGGTTAGCTTTAGGCTATTTTATGGGTCCAGGAGAGGGTTAGGTATGGGGCTGAGGTGGACATCTGGAAAGGGGTAGGTTTAGGGTCAGAATTTGGCATGCTCTGGCCTGGATGGTGGTTTAGGTTTGGATTTGCGGACAGGTTTGGGGTGAAGCCAGCATGAGGGGTCACATTTGAGGCACGGCTTGGGGATCCTTGGGGCTGGGGCTTGGGAATGGAGGAACCCACTCTGAGGGCACTCAGAGGGAGACAGGAGTTTGGGAGGCAGGTCCCCCACCCCATCTTTGTCTTCCTCCTCCTTGGGGCCGAGCTGCCCTGCTTACCCAGCGGATGAGCGTGGCGTAGGTGAAAGGGGGTCGCATGTTGTGGAACTTGAAGTAGTCCATGTTGTGGAGGAACTCTGTCAGAGGGTGGGGATGAATCAAGCCCCATGCAGGACCTCCTAGCTAGCTCCCTGTCCCCTCCCCCTACAAGGTGAGTCTACAGGCCTGAGATCTCACCGTCAACACCCGTGTCCACGGGCACAGGTACTGTTTGCTGAGCACCTGACATAAGTTGTATCATTTATTCTTTGCACCACTTCTGCCAAAATAGTTCTCCCCGAGGTTGAAAAGAAGCGGAGTAACTTGCACACCAAAGGATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCG
GATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTGGCGGATGGCGTTCTGTGGAAGGCCGGGGACAGGGAGCAGGTGGGCGTCAACCTCTGAGGCCAGCAGCCACCACCAACAACCCACATCCCGTTCCTCCCCAATGTGCCTATGAGCCCAGACCCAGGCCTGCCCACTTTGAGCTGCGATGGCACTTGAGGCCATCCCAGTCACCGCCACCTCAGAGGAGCTCACCTTCCAGGTGGCAGGATGGTTTCTGAAGAAGGCAAACATGCGTGTGAACCAGTGGTAGATCTCATTGAGTGTCCGCTGCTTCTCTGGAGCCTCCAGGATGGCCTGGAAGTTGGGGGGTGGGGTAAGGGGCACATTCCCCAAACTTGGGGTTTAGAGGGGCTATGACCTACCCCGAGCCATCTGACATGGGGGCGGAATTGTAGGGGCAGGTAATCAGGGACAGGACTAGATGTGGGGTGAAGCATGGGGTCAAAGATGGGGTTAGAAAAGGGGTGAAGTGTCGGGTTGGGCAGGGTTAGATGGGTGTGGGTATGGTTGTTCTGGGATTAGGTAAGGGATCAGGACTGAGGTTGGGAGTGGGGTCTTGTTCAGGGCTAGGGCTGAAGTGAGGTGAAAGGTCTGGGATGGAGTTGGAGTTGGGGTTCTCTGTGGAGGTGACATTTCAGGGTTGGGGAAGGTGAAGGGTCAGAAGTGGGGTCAAGGATTTGGAAGGGGTAAAGGGCCAGGCCAACTTAAGGGTCAGGGAAGGGGTGGGTTAAGAGTCAGGCTGGGGTGGACTCAGGTGGGGGGTCTAGGGGTGAGGGATGGGATGACTTGGCTTTAGGTCAGAAGCCAGAGATGGTTTGAATTATCGAGTATCTTACGTGTCAGGGACATGGTTAGGTGGTTAGGCTCAGGGCAAGGATGAGGTTAGTTGTGGGGTTCGGTGTGGAGTGAGGCTGAGGGTCAGGGAATTTGATCAGTTTGGATTCAGGAATGGGATTACAGAGTCAGCGATGATGATTGCAGTGAGGCTATCAGTCAGGATGGGGCTAGGTCAGGGTTTCAGTTCAGAGACAGTCGGGGAATATCTGGTATCATGTAGGGGTGAGGTTCAGGTTTGGGGTTAGGTGTGGCGCTAGGATGAAGGTTCTGAGAAGGCATTGGGGAGGCTGAGATGAAGGAGTTGGGATGGGGTGATGAAGTTAAGGATCAAATGGGTGTTACAAGGAAAGGTTGGGAATGGTGCCCAGTTGGGGGTGTATTGACATACTGGGGTACGTTGGGGCCAGGGAAGGAGATGGGGTTGGGTTGGCATAAAGGCTGGGGAAGGAGTTAGAGTAAGAGCTGGGGTACGTTTAGGGCAAGGTGCAGAGATGGGGTTAGCTTTAGGCTATTTTATGGGTCCAGGAGAGGGTTAGGTATGGGGCTGAGGTGGACATCTGGAAAGGGGTAGGTTTAGGGTCAGAATTTGGCATGCTCTGGCCTGGATGGTGGTTTAGGTTTGGATTTGCGGACAGGTTTGGGGTGAAGCCAGCATGAGGGGTCACATTTGAGGCACGGCTTGGGGATCCTTGGGGCTGGGGCTTGGGAATGGAGGAACCCACTCTGAGGGCACTCAGAGGGAGACAGGAGTTTGGGAGGCAGGTCCCCCACCCCATCTTTGTCTTCCTCCTCCTTGGGGCCGAGCTGCCCTGCTTACCCAGCGGATGAGCGTGGCGTAGGTGAAAGGGGGTCGCATGTTGTGGAACTTGAAGTAGTCCATGTTGTGGAGGAGCTCTGTCAGAGGGTGGGGATGAATCAAGCCCCATGCAGGACCTCCTAGCTAGCTCCCTGTCCCCTCCCCCTACAAGGTGAGTCTACAGGCCTGAGATCTCACCGTCAACACCCGTGTCCACGGGCACAGGTACTGTTTGCTGAGCACCTGACATAAGTTGTATCATTTATTCTTTGCACCACTTCTGCCAAAATAGTTCTCCCCGAGGTTGAAAAGAAGCGGAGTAACTTGCACACCAAAGGATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCG
Task1_train_29902
This alteration occurs within gene FOXP3 (forkhead box P3) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCT
ACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACCTTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCT
Task1_train_29903
Given this variant in gene FOXP3 (forkhead box P3) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Non-obstructive azoospermia
CGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGAT
CGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTTTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGAT
Task1_train_29904
A change on Chromosome X affects gene FOXP3 (forkhead box P3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
GGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGCATCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGA
GGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGAGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGCATCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGA
Task1_train_29905
Located on Chromosome X, this mutation impacts FOXP3 (forkhead box P3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
TTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGCATCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGAACTCCACTTCTTTCTTTAGGAAGTGTTTCCGTGTGCACATTTTATAAACTCTCTGGTGTGTGTGTGTGTGTGTCTCCATCTCCCCGTTCCACCTCACAGCACTGAGTTGGGCACACAGCTGCTGAGAGCAGCCCGGGGGAGTATAGAAGGGTTCTGGGGGAGCAGTTGCTCCTTCCTTTCTTTGCTGTCACCTCCTGGGGGTGGTTGTCAGAGCTGTGGTGCTGAGGGAGATGAGTGTGAGAATCCAGGTATTAAGTTCTTAGTCTCCTGGGGGCTTAGAACATTACTGCGTGAGAAACAGGAGTGTGGGTCTGTGGAGGCTCCGAACAAGGGCCTGGGAGAGCACTGGTGAGATGAGAAGGTGAGTGAATGAATGAAGCCAGAGATGGGGTGATGCTCCTTCAAGCCAAGAAATAACAAAGATTGCCAGCAACCACCAGAAGCTGGGGGAGAGGCCTGGAGCAGCTTCTCCCTTATGGCCCCCAGAAGGAACCAACCCTGGCAACACCTTGATCTTGGACTCTGGCCTCCAGAACTGTGAGATGATCAATTTCTGTTGCTGAAGCCACTCAGTTGTGGTACTTTGTTATAGCAGCCAGAACAAACTAATACCGATTTCGGTGCAAATGGATGTTTTCCACCACTCTGGCCTGGCCCATGTGGCTGGCCTGTGGTCACTTCTGAAGCTGCCTGGACACTTGGCCAGAGCTAAGAATTCTCCCCAAACACATGTGGGATGGCCTGACTC
TTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGTATCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGAACTCCACTTCTTTCTTTAGGAAGTGTTTCCGTGTGCACATTTTATAAACTCTCTGGTGTGTGTGTGTGTGTGTCTCCATCTCCCCGTTCCACCTCACAGCACTGAGTTGGGCACACAGCTGCTGAGAGCAGCCCGGGGGAGTATAGAAGGGTTCTGGGGGAGCAGTTGCTCCTTCCTTTCTTTGCTGTCACCTCCTGGGGGTGGTTGTCAGAGCTGTGGTGCTGAGGGAGATGAGTGTGAGAATCCAGGTATTAAGTTCTTAGTCTCCTGGGGGCTTAGAACATTACTGCGTGAGAAACAGGAGTGTGGGTCTGTGGAGGCTCCGAACAAGGGCCTGGGAGAGCACTGGTGAGATGAGAAGGTGAGTGAATGAATGAAGCCAGAGATGGGGTGATGCTCCTTCAAGCCAAGAAATAACAAAGATTGCCAGCAACCACCAGAAGCTGGGGGAGAGGCCTGGAGCAGCTTCTCCCTTATGGCCCCCAGAAGGAACCAACCCTGGCAACACCTTGATCTTGGACTCTGGCCTCCAGAACTGTGAGATGATCAATTTCTGTTGCTGAAGCCACTCAGTTGTGGTACTTTGTTATAGCAGCCAGAACAAACTAATACCGATTTCGGTGCAAATGGATGTTTTCCACCACTCTGGCCTGGCCCATGTGGCTGGCCTGTGGTCACTTCTGAAGCTGCCTGGACACTTGGCCAGAGCTAAGAATTCTCCCCAAACACATGTGGGATGGCCTGACTC
Task1_train_29906
This mutation is located in gene FOXP3 (forkhead box P3) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
TGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGCATCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGAACTCCACTTCTTTCTTTAGGAAGTGTTTCCGTGTGCACATTTTATAAACTCTCTGGTGTGTGTGTGTGTGTGTCTCCATCTCCCCGTTCCACCTCACAGCACTGAGTTGGGCACACAGCTGCTGAGAGCAGCCCGGGGGAGTATAGAAGGGTTCTGGGGGAGCAGTTGCTCCTTCCTTTCTTTGCTGTCACCTCCTGGGGGTGGTTGTCAGAGCTGTGGTGCTGAGGGAGATGAGTGTGAGAATCCAGGTATTAAGTTCTTAGTCTCCTGGGGGCTTAGAACATTACTGCGTGAGAAACAGGAGTGTGGGTCTGTGGAGGCTCCGAACAAGGGCCTGGGAGAGCACTGGTGAGATGAGAAGGTGAGTGAATGAATGAAGCCAGAGATGGGGTGATGCTCCTTCAAGCCAAGAAATAACAAAGATTGCCAGCAACCACCAGAAGCTGGGGGAGAGGCCTGGAGCAGCTTCTCCCTTATGGCCCCCAGAAGGAACCAACCCTGGCAACACCTTGATCTTGGACTCTGGCCTCCAGAACTGTGAGATGATCAATTTCTGTTGCTGAAGCCACTCAGTTGTGGTACTTTGTTATAGCAGCCAGAACAAACTAATACCGATTTCGGTGCAAATGGATGTTTTCCACCACTCTGGCCTGGCCCATGTGGCTGGCCTGTGGTCACTTCTGAAGCTGCCTGGACACTTGGCCAGAGCTAAGAATTCTCCCCAAACACATGTGGGATGGCCTGACTCA
TGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGGGCGTGGGCATCCACCGTTGAGAGCTGGGGGGCACATGTGGGCTGTGGTTCAGCCTGACTCGGGGCCCCTCCCCACAGTTCTCCCACCTGCTCCCTCCTCCCTGCCCATTCACCGTCCATACCTGGTGCATGAAATGTGGCCTGTCCTGGAGGAGTGCCTGTAAGTGGGGCAAGGGGCCCAGCCGTGCCCCGGAGGGTGCCACCATGACTAGGGGCAGTGTGGGCAGCTGGGCAGAAAGGCAGGTGGGTGAGAGGCCATCCTGATCCTCACTGTTCTGTGTCTAATTCAAATACTCTGCACTGCAAGCCCACATGGTAGATGCTATGATCATCCCCCTTTTACACGTATGGAAACTGAGGCTCATGGAGATCGAGTAACTTTTTAAAGATCAAACAGCTAATAAGTTGCAGAGCTGGCCTCAGCCCTGTCACCTCACCTACTTGGCCCCAGTCCTCTTCTCTTGTCACATGGGGATGGGGACACATAGCTATGCTCATGGGACTACAATACGGCCTCCTCCTCTCCTGAGACAGGGATTGGGAGGTCGGGGAGAGCCTCCAATCTCTGAGGCCTGGCAGGTGGGGATTTTCTTGGCCCTGCAACATCTGCATAAGTCACAGACTTGCCTGGGACCCAGAAACCACTTCCTGTGCCCCAGCCAGCCCCCCTCCCGCCCAGTGCCACAGTAAAGGTCGGCACCTGTAGGTCCAGGTACCCCACCCTGCCTGCCCCATCCTGGGCCCAGGGCCTCACCTGCAGCTGCGATGGTGGCATGGGGTTCAAGGAAGAAGAGGAGGCATGGGCCCCGCCTCGAAGATCTCGGCCCTGGAAGGTTCCCCCTGGGCCCCGGGCCCCCAGCAGGTCTGAGGCTTTGGGTGCAGCCCTCCAGCTGGGCGAGGCTCCTGGGGATGGGCCAAGGGCCAAGGAAGGGGCCGAGGGCTTGCCAGGCCTGGGGTTGGGCTTCGGGTCCTTGTCCAAGGGCAGGCTGCGTAGACAATAGGGGAAAGGAGTCACACGTGTGCTAGGGCGGTATGAGATACTCGACCACCTGAGCCACGTGGACACTCCTCTGGTCAAAGCAGGCATTGGCTGGGACATGTCCCGAGGGGCCCCATAGTTGCACCCCAGCTCTAGACACACACACACACACACACACACACACACACCAAGAACACAGGTACATGTACATACCCACACATGCCCCACGTGCAGAGGTCCAGCACCTGGCTTGCCTGCCCACGCTAGCACAGCCCTGGTGTGGATGTGTCCTCTATGAGGGCAATGGTTGTTTCCCCCTCCACTTGAGAGCTGTTTCAAGCCTCAGGCCTCTAGCCCTCCCTGCACCCTGCACAGGCTGTGTTTGCTCATCTTGCCGGAGCTGGTCTCGGACTTTCTCCTCGGAGTCCTATTTTGCCCCAGTGACTAGGCATGGACTCAAAAGATTCATCTGGCTGCTGTGAGTGGGGCTAGTGAGGAGGCTATTGTAACAGTCCTGGCAAGTGATGATGCTGGCACAGAATGGGCTGGTGGCAGTGGAGAAGGCGAGAAGTGGGTAGATTCTGAGACTTAATCTGAAGCTGGATCAGGAGCAGTGCTAGCAGCTTGGATGTAGTGGGCAAGAGGGAGAGTCAAAGTGACATGGGTTTTAGCTTGAGCAGCTGGAAGGACCGAGCTGACATTACCTGAGATGGGGGACATGGCGGGGAGTTGGATTGGGTGCAAAAGTGCAGGTGTAGATAGACATGAAGAGTCTGGCATTAAATATGTGAGTGGAGGAGCTGAGGGGGCAGCTGAATACGGGGGTCTGGATCTCAGGGCAAGGAGGCGAGTCCAGGAGTGTGATCATGCACGGATCCAGCATGGCAAGTGACAGAGAGGAGGAGAGATGGGGTCTCTTGAGCTGGGGCCTGTAGAAGCTTCTCTACCCAGCCCCCATCAGAGTTCACCCCAATTTCTGGCCCTCAAGCCTGGCTCATGCTACACCCCCTGCCTCAAATGCCCACTCCTTCTCCTCTTTCCCTGTCCAAGCCACGCAAGACCTGCTCTTCTATTGTCCTCACCTTGAAAGCCCTCCACAATGGCTCCGGGCCCCCTGCTGAGCCCCAGAACCTTCCACTCCCTGAGGGAAGCACTGGCTTTTCAGGATCCTATAATCCTGGTCTGAGAGGAAGCCAGAGCTGGAAGGGACTGCCCAGCCAACCCCATTATACAGAAGGGGATGCTCAGATGCCGAGTTCCGTAGTCCCATAGTGACTTGAGAACTCCACTTCTTTCTTTAGGAAGTGTTTCCGTGTGCACATTTTATAAACTCTCTGGTGTGTGTGTGTGTGTGTCTCCATCTCCCCGTTCCACCTCACAGCACTGAGTTGGGCACACAGCTGCTGAGAGCAGCCCGGGGGAGTATAGAAGGGTTCTGGGGGAGCAGTTGCTCCTTCCTTTCTTTGCTGTCACCTCCTGGGGGTGGTTGTCAGAGCTGTGGTGCTGAGGGAGATGAGTGTGAGAATCCAGGTATTAAGTTCTTAGTCTCCTGGGGGCTTAGAACATTACTGCGTGAGAAACAGGAGTGTGGGTCTGTGGAGGCTCCGAACAAGGGCCTGGGAGAGCACTGGTGAGATGAGAAGGTGAGTGAATGAATGAAGCCAGAGATGGGGTGATGCTCCTTCAAGCCAAGAAATAACAAAGATTGCCAGCAACCACCAGAAGCTGGGGGAGAGGCCTGGAGCAGCTTCTCCCTTATGGCCCCCAGAAGGAACCAACCCTGGCAACACCTTGATCTTGGACTCTGGCCTCCAGAACTGTGAGATGATCAATTTCTGTTGCTGAAGCCACTCAGTTGTGGTACTTTGTTATAGCAGCCAGAACAAACTAATACCGATTTCGGTGCAAATGGATGTTTTCCACCACTCTGGCCTGGCCCATGTGGCTGGCCTGTGGTCACTTCTGAAGCTGCCTGGACACTTGGCCAGAGCTAAGAATTCTCCCCAAACACATGTGGGATGGCCTGACTCA
Task1_train_29907
This variant affects the gene USP27X (ubiquitin specific peptidase 27 X-linked) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Intellectual disability, X-linked 105
TCAGGCCGGGCGGGGGACACCCCAGGTCTGCGTGGCCCCCGCGCCGCCACGCCCAGTGGCCGCCCGAGCCCTGCGAGCAGGGGGAGGAGCCGCCGCCAGTGGAGGCGGAGGAGGTAGAGGAGGCGGAGACGGCGGAGAAGGCGGAGAGGAAGGTGGAGGCGGAGGCGAAGGTGGAGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGGTGGACGCCACCGAGAAGGTGGAGACGGCGGGGAAGGTGGACGCCGCTGGGAAGGTGGAGACGGCGGAGGGTCCGGGCCGCCGGGCTGAGCTCAAGCTGGAGCCCGAACCCGAGCCGGTCCGGGAGGCGGAGCAGGAGCCGAAGCAGGAGCTGGAGGATGAGAACCCAGCGCGGAGCGGCGGTGGCGGCAACAGCGACGAGGTTCCTCCCCCCACCCTTCCCTCCGATCCACCGCGGCCCCCCGATCCCTCTCCGCGTCGCAGTCGTGCGCCGCGCCGCCGACCCCGGCCCCGGCCCCAGACCCGGCTCCGTACCCCGCCGCAGCCTAGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCGCGGCCCTGGGGGCGGATGCCTGGATGTGGATTTTGCCGTGGGGCCACCAGGCTGTTCTCACGTGAACAGCTTTAAGGTGGGAGAGAACTGGAGGCAGGAACTGCGGGTTATCTACCAGTGCTTCGTGTGGTGTGGAACCCCAGAGACCAGGAAAAGCAAGGCAAAGTCCTGCATCTGCCATGTGTGTGGCACCCATCTGAACAGACTCCACTCTTGCCTTTCCTGTGTCTTCTTTGGCTGCTTCACGGAGAAACACATTCACGAGCACGCAGAGACGAAACAACACAACTTAGCAGTAGACCTGTATTACGGAGGTATATACTGCTTTATGTGTAAGGACTATGTATATGACAAAGACATTGAGCAAATTGCCAAAGAAGAGCAAGGAGAAGCTTTGAAATTACAAGCCTCCACCTCAACAGAGGTTTCTCACCAGCAGTGTTCAGTGCCAGGCCTTGGTGAGAAATTCCCAACCTGGGAAACAACCAAACCAGAATTAGAACTGCTGGGGCACAACCCGAGGAGAAGAAGAATCACCTCCAGCTTTACGATCGGTTTAAGAGGACTCATCAATCTTGGCAACACGTGCTTTATGAACTGCATTGTCCAGGCCCTCACCCACACGCCGATACTGAGAGATTTCTTTCTCTCTGACAGGCACCGATGTGAGATGCCGAGTCCCGAGTTGTGTCTGGTCTGTGAGATGTCGTCGCTGTTTCGGGAGTTGTATTCTGGAAACCCGTCTCCTCATGTGCCCTATAAGTTACTGCACCTGGTGTGGATACATGCCCGCCATTTAGCAGGGTACAGGCAACAGGATGCCCACGAGTTCCTCATTGCAGCGTTAGATGTCCTGCACAGGCACTGCAAAGGTGATGATGTCGGGAAGGCGGCCAACAATCCCAACCACTGTAACTGCATCATAGACCAAATCTTCACAGGTGGCCTGCAGTCTGATGTCACCTGTCAAGCCTGCCATGGCGTCTCCACCACGATAGACCCATGCTGGGACATTAGTTTGGACTTGCCTGGCTCTTGCACCTCCTTCTGGCCCATGAGCCCAGGGAGGGAGAGCAGTGTGAACGGGGAAAGCCACATACCAGGAATCACCACCCTCACGGACTGCTTGCGGAGGTTTACGAGGCCAGAGCACTTAGGAAGCAGTGCCAAAATCAAATGTGGTAGTTGCCAAAGCTACCAGGAATCTACCAAACAGCTCACAATGAATAAATTACCTGTCGTTGCCTGTTTTCATTTCAAACGGTTTGAACATTCAGCGAAACAGAGGCGCAAGATCACTACATACATTTCCTTTCCTCTGGAGCTGGATATGACGCCGTTTATGGCCTCAAGTAAAGAGAGCAGAATGAATGGACAATTGCAGCTGCCAACCAATAGTGGAAACAACGAAAATAAGTATTCCTTGTTTGCTGTGGTTAATCACCAAGGAACCTTGGAGAGTGGCCACTATACCAGCTTCATCCGGCACCACAAGGACCAGTGGTTCAAGTGTGATGATGCCGTCATCACTAAGGCCAGTATTAAGGACGTACTGGACAGTGAAGGGTATTTACTGTTCTATCACAAACAGGTGCTAGAACATGAGTCAGAAAAAGTGAAAGAAATGAACACACAAGCCTACTGAAGTGACACACAGACCTACCTGCAATGGAAGATGACGACACCAATACTACAACTGGCATCGAGATCTAAAGGACCTACTTGACCATGGCCCATGGGCCTGACAGAGTAAGAATTGAACAGTACCCAGTGTCCAAAAGGTCCTGATTGGAAGAGAAATAGAAGGGGAGGGAGAAGAGGCTCTAGTCTAAGCAGTTGATGAAAGGGAAATTAAATGGTAGAAACACTCTGGGTGAGGAAGGCAGGAGCAGGAAAATGCTGACACTGGTACATATCCTATATTCCTCCAAAAGATTGTGTGGGAAAGTGTGGGGGGGAGGGGGGTGGTGGGGGGGGAGTGTGCCCTTGTAACCGTAAAACATCTTTCTCCATGGGTGTTTCAGCTTCAATTGACCAATCACATAACAGTTATATGTTTGGGGGGAAAAAGAAAAGTTTCTAAAAAATGTAGCCCATTACATATATGGGTATGAAAGCAGAAAAGTGGAGGAGGCAGGGATATCATTGACAAACACCTTTGCCAGTTTCTTTGTATTCGTGATTTTTTGTGCTATTAAATGCAGTATTAAAACAAGAAAAGCCCACCTGGGCTAGTGAAAGGAGAGGAAATAAGGGGGCTTGTAAAAGGGGAGCCGTCGCTCCAAAAGTAGAGAAGACAAGAAATGCTGTAAGATAAGCAACCAACGCAGACAGGCCTCAGCTAAGAGTATAGTGTGTGTGTGTTAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAGCTGTATGATATACTTGAGCAAATCAATGAACCTCTTTGCGATTGTTTTATCATCTGTAAAATGCAGATAATTCCTACCTTAAAGGGTTATTGTTAAAGATAAAATGATATAAAAATGTGTCAAAGTATAAAGTAAAAGGCTTGGAACTTTGTAGGGACTCAGTAAACGTTTGTTGGATCCAAACCTGAAACTTCTTTGGACCAGGCCCAGAATGCATCAGAGGTGGGGGTCAGTCCTGCCTGAGACCCCTGGACAGAAGGGACACACATCATGTCACATACAGTCACACACACATTCTCCACAACTCCCTCCCCAATGCTGTCTATTTAGAGTACCAAGGCAATGAACTCCACTTTTGTCCCTTGTGTGCAGGGCATCACAGTGGGTGCCACCTGGGATTGGGGGTGGAAAGGACCACAGCTGTCCCATAAGGTCATTATTCTGTCCTTTTGGAGGACAGTCATGTTGCTTTCATGATTCAGATCCCAGTGATGGGACTCTCATGGCCAGTAGGCTGCCAGGCTTGCACACGAGGGAATTTGGTGGTCTTCGTCTTCTAAAAACATTATGGGTTCGGTTGCTATGTTTACTCACAGGCACAGATCAGTAGAAAGACTGTTTTCCAAAGTTCACTGGCCCATCAGCCCAGGGATATTGATAGAGTGGCTTGTTGGCCCCTTCCCTGATACTGTCAGAGGGCAGAGCAGCCTGCAGAGAGCTAAGCCAAAACAGATGGGATGAACCCAGGATGGGGTAAGCACTATGAGTCCTTCTCTCATCAGCATCAGGTACAAAAGTAATTGTTACCTAGATAATCCTGGAGGGAAATTGAATGCGTATCACATCCATGGGGCTTGGATCCACTGGCTCTGGTAAAAGGCTGGGCTCCCCATTGCTTCCCAAGTCTACTTCATGGTCAACTCATTTGGAAATATATGTTTATTTACGTGGCTGTGGGTGCATCACAACTAGCTTATAGGCTTTTTTAGGACAGGAGTTGTGTCTCCTCTTGTACCTTGGGATGCATTCTCATTCCCTTAGCTCCTGTCACATGGTAAGTAGGTATTCAAAACATTTACTGAATGAATGAATGGATGGATGAGTTAATGAACCAATACAC
TCAGGCCGGGCGGGGGACACCCCAGGTCTGCGTGGCCCCCGCGCCGCCACGCCCAGTGGCCGCCCGAGCCCTGCGAGCAGGGGGAGGAGCCGCCGCCAGTGGAGGCGGAGGAGGTAGAGGAGGCGGAGACGGCGGAGAAGGCGGAGAGGAAGGTGGAGGCGGAGGCGAAGGTGGAGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGGTGGACGCCACCGAGAAGGTGGAGACGGCGGGGAAGGTGGACGCCGCTGGGAAGGTGGAGACGGCGGAGGGTCCGGGCCGCCGGGCTGAGCTCAAGCTGGAGCCCGAACCCGAGCCGGTCCGGGAGGCGGAGCAGGAGCCGAAGCAGGAGCTGGAGGATGAGAACCCAGCGCGGAGCGGCGGTGGCGGCAACAGCGACGAGGTTCCTCCCCCCACCCTTCCCTCCGATCCACCGCGGCCCCCCGATCCCTCTCCGCGTCGCAGTCGTGCGCCGCGCCGCCGACCCCGGCCCCGGCCCCAGACCCGGCTCCGTACCCCGCCGCAGCCTAGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCGCGGCCCTGGGGGCGGATGCCTGGATGTGGATTTTGCCGTGGGGCCACCAGGCTGTTCTCACGTGAACAGCTTTAAGGTGGGAGAGAACTGGAGGCAGGAACTGCGGGTTATCTACCAGTGCTTCGTGTGGTGTGGAACCCCAGAGACCAGGAAAAGCAAGGCAAAGTCCTGCATCTGCCATGTGTGTGGCACCCATCTGAACAGACTCCACTCTTGCCTTTCCTGTGTCTTCTTTGGCTGCTTCACGGAGAAACACATTCACGAGCACGCAGAGACGAAACAACACAACTTAGCAGTAGACCTGTATTACGGAGGTATATACTGCTTTATGTGTAAGGACTATGTATATGACAAAGACATTGAGCAAATTGCCAAAGAAGAGCAAGGAGAAGCTTTGAAATTACAAGCCTCCACCTCAACAGAGGTTTCTCACCAGCAGTGTTCAGTGCCAGGCCTTGGTGAGAAATTCCCAACCTGGGAAACAACCAAACCAGAATTAGAACTGCTGGGGCACAACCCGAGGAGAAGAAGAATCACCTCCAGCTTTACGATCGGTTTAAGAGGACTCATCAATCTTGGCAACACGTGCTTTATGAACTGCATTGTCCAGGCCCTCACCCACACGCCGATACTGAGAGATTTCTTTCTCTCTGACAGGCACCGATGTGAGATGCCGAGTCCCGAGTTGTGTCTGGTCTGTGAGATGTCGTCGCTGTTTCGGGAGTTGTATTCTGGAAACCCGTCTCCTCATGTGCCCTATAAGTTACTGCACCTGGTGTGGATACATGCCCGCCATTTAGCAGGGTACAGGCAACAGGATGCCCACGAGTTCCTCATTGCAGCGTTAGATGTCCTGCACAGGCACTGCAAAGGTGATGATGTCGGGAAGGCGGCCAACAATCCCAACCACTGTAACTGCATCATAGACCAAATCTTCACAGGTGGCCTGCAGTCTGATGTCACCTGTCAAGCCTGCCATGGCGTCTCCACCACGATAGACCCATGCTGGGACATTAGTTTGGACTTGCCTGGCTCTTGCACCTCCTTCTGGCCCATGAGCCCAGGGAGGGAGAGCAGTGTGAACGGGGAAAGCCACATACCAGGAATCACCACCCTCACGGACTGCTTGCGGAGGTTTACGAGGCCAGAGCACTTAGGAAGCAGTGCCAAAATCAAATGTGGTAGTTGCCAAAGCTACCAGGAATCTACCAAACAGCTCACAATGAATAAATTACCTGTCGTTGCCTGTTTTCATTTCAAACGGTTTGAACATTCAGCGAAACAGAGGCGCAAGATCACTACATACATTTCCTTTCCTCTGGAGCTGGATATGACGCCGTTTATGGCCTCAAGTAAAGAGAGCAGAATGAATGGACAATTGCAGCTGCCAACCAATAGTGGAAACAACGAAAATAAGTATTCCTTGTTTGCTGTGGTTAATCACCAAGGAACCTTGGAGAGTGGCCACCATACCAGCTTCATCCGGCACCACAAGGACCAGTGGTTCAAGTGTGATGATGCCGTCATCACTAAGGCCAGTATTAAGGACGTACTGGACAGTGAAGGGTATTTACTGTTCTATCACAAACAGGTGCTAGAACATGAGTCAGAAAAAGTGAAAGAAATGAACACACAAGCCTACTGAAGTGACACACAGACCTACCTGCAATGGAAGATGACGACACCAATACTACAACTGGCATCGAGATCTAAAGGACCTACTTGACCATGGCCCATGGGCCTGACAGAGTAAGAATTGAACAGTACCCAGTGTCCAAAAGGTCCTGATTGGAAGAGAAATAGAAGGGGAGGGAGAAGAGGCTCTAGTCTAAGCAGTTGATGAAAGGGAAATTAAATGGTAGAAACACTCTGGGTGAGGAAGGCAGGAGCAGGAAAATGCTGACACTGGTACATATCCTATATTCCTCCAAAAGATTGTGTGGGAAAGTGTGGGGGGGAGGGGGGTGGTGGGGGGGGAGTGTGCCCTTGTAACCGTAAAACATCTTTCTCCATGGGTGTTTCAGCTTCAATTGACCAATCACATAACAGTTATATGTTTGGGGGGAAAAAGAAAAGTTTCTAAAAAATGTAGCCCATTACATATATGGGTATGAAAGCAGAAAAGTGGAGGAGGCAGGGATATCATTGACAAACACCTTTGCCAGTTTCTTTGTATTCGTGATTTTTTGTGCTATTAAATGCAGTATTAAAACAAGAAAAGCCCACCTGGGCTAGTGAAAGGAGAGGAAATAAGGGGGCTTGTAAAAGGGGAGCCGTCGCTCCAAAAGTAGAGAAGACAAGAAATGCTGTAAGATAAGCAACCAACGCAGACAGGCCTCAGCTAAGAGTATAGTGTGTGTGTGTTAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAGCTGTATGATATACTTGAGCAAATCAATGAACCTCTTTGCGATTGTTTTATCATCTGTAAAATGCAGATAATTCCTACCTTAAAGGGTTATTGTTAAAGATAAAATGATATAAAAATGTGTCAAAGTATAAAGTAAAAGGCTTGGAACTTTGTAGGGACTCAGTAAACGTTTGTTGGATCCAAACCTGAAACTTCTTTGGACCAGGCCCAGAATGCATCAGAGGTGGGGGTCAGTCCTGCCTGAGACCCCTGGACAGAAGGGACACACATCATGTCACATACAGTCACACACACATTCTCCACAACTCCCTCCCCAATGCTGTCTATTTAGAGTACCAAGGCAATGAACTCCACTTTTGTCCCTTGTGTGCAGGGCATCACAGTGGGTGCCACCTGGGATTGGGGGTGGAAAGGACCACAGCTGTCCCATAAGGTCATTATTCTGTCCTTTTGGAGGACAGTCATGTTGCTTTCATGATTCAGATCCCAGTGATGGGACTCTCATGGCCAGTAGGCTGCCAGGCTTGCACACGAGGGAATTTGGTGGTCTTCGTCTTCTAAAAACATTATGGGTTCGGTTGCTATGTTTACTCACAGGCACAGATCAGTAGAAAGACTGTTTTCCAAAGTTCACTGGCCCATCAGCCCAGGGATATTGATAGAGTGGCTTGTTGGCCCCTTCCCTGATACTGTCAGAGGGCAGAGCAGCCTGCAGAGAGCTAAGCCAAAACAGATGGGATGAACCCAGGATGGGGTAAGCACTATGAGTCCTTCTCTCATCAGCATCAGGTACAAAAGTAATTGTTACCTAGATAATCCTGGAGGGAAATTGAATGCGTATCACATCCATGGGGCTTGGATCCACTGGCTCTGGTAAAAGGCTGGGCTCCCCATTGCTTCCCAAGTCTACTTCATGGTCAACTCATTTGGAAATATATGTTTATTTACGTGGCTGTGGGTGCATCACAACTAGCTTATAGGCTTTTTTAGGACAGGAGTTGTGTCTCCTCTTGTACCTTGGGATGCATTCTCATTCCCTTAGCTCCTGTCACATGGTAAGTAGGTATTCAAAACATTTACTGAATGAATGAATGGATGGATGAGTTAATGAACCAATACAC
Task1_train_29908
Given this variant in gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; X-linked recessive nephrolithiasis with renal failure
CATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAAGGTCATTTGCCTTTAACTTGTTGCTGTGTATCATTTAAATTAGGGAATCACAATTTCTGGTTTGTATAAGGGCCACGTGGAGAGCTTATTAAAAAAATAGTTGTCCAACCCCAGAGATTCTCAGTAGGTGGTCCTCTGGTGAGTCACTTCTTCAACCCACAATAGGTATTATTTTTTTTTCTTTCTTACTATTTCTGCTTGGACTCCAGATTTGAAATGTGATTTTTTAAGCTGCCCCATTCTCTCCCAAGTTCATGATTTCCTCCTCTTAGAACCAAGCAAATCTCTTGAGTAGTCAGGTGGAGATTGACTTTCGTTCTTAAGCCTTTCCAGCTCCTGACTGGTTTTCTCACGACCACCTGAACCCAGGAGTCAGGTTGTCCCAAGTACAGGTTTTGAGAAATTCCTTCTTAATCCATGGATATTTGGTGATTCCACCGAGTTTTCTTGTCACAACTCGAAAAGTTGATCACTATAAAGCATTTCATGTTTTTTCATAAGATTTCTGCCATTTGGGAACATATACACATATTCTTTCTATCGTATGTATCAATTCATCAGGCGGGCTTTAGAATTTCTGCCATCTGTAATTTACCAGTTTGTCATCAGTTGCATATTCAACATGTTATCCAGATTATGAGAGTCACCTGTGATATGACAAGTGCACACTTCCTTTTATATTAATGGTTGCATCTGAGGCAAATTATGCCAATTAGTAATCCAAAACCAGTTAAAGTGTGTTTATCAAATAGCCCAAGGGGGCTTTTTGTTTTATAGCATTAACTGTTCATTATCAGAAGGGAAACACTGTCACAGGGAAAAATGTAACTTTGTTCCTTTTCAGCACTGAAATTGGAAACTTAGAGTCATAGGTCAAAACTATTTAAAAAAATGCTTTTGAAATTCTCAGAATAATTTATTGTCTGTGACGTTACTGTAGATAAGGTGGGGTAACTAAGTTGCCATTTCAAAGATAAGAAATAGAGGTACAGAGAAAGGGGAGGTACCAGTGACAAAACTGTCAGAATGTTGATTTTTAAAATGTAGGCCCTGAAGGGTTAAATTGTCAAGTCTAGGACTTAAAAGATAAAACTTTCTGCACCTCCTGATAGCCTTGATGTTACCAGCAGGTTGTTGAAAATGAAAAGAGATACATCATTGCTATCACTTAGTATCGGTGACCACTGTACAATTAGGCGTTTGTGGGATGAAGTCTGGGAATTTGCCTGACCTGAACCACAGCCCCCAGGTAGTAAGCCTCAATTTGTACTTTTATCACTCAAATAAGCCTGTGTTTATTTATTCTTTGAAAAACATTGAAACTATTTGCTGTGAGTCAAGAGATTGCCCTTGGAATATCTGATGTCCAGGATAGAAAGATACCACTGCAATAAGCAAAACAAGTTGATGCTATAAGAAATGATGGCTTGGGAGGAAGCTCTGAATAAGGAACTTGTGGGCATTACAATACTGTAGATGAAGGTGGGGTTTCGGTAAACCTCAAAGTTGTTAGTGAAACTGGTTCAGCTAAAGATTATGTGAAAAGTAGCTCTAAATTGGTCTCTATTCTCCAGTGATTTGTCTTTGTATTTCTTTGTTGAACAGTTTTTAAGTGAAAAAATGGTGTGTGTAGAGTGTACCAATGTTTTCTCATTTTCCCCTAGATTACCAATAAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTATGGTAAACTGTTAGTTTTCAAAACAAATCTCCTAAAATTGTGGTATGTCTCTCCCGTAAGTCCTGAGCTGAGTCACGTACTGTGTTTTCCTGTTTTTCTACCTTAAATGAATTGCTGGTGAACCTTATAGAAGCTCAATGTCCCCATCTGTAAAGGGTACTAATACCTGCAATTCTTACCTTGAATAAATGAGGAAATGCATTTAAATGCATTTTGTACACTATAAAATACTGTATCCATTTTAAGGTGATGTTAGCCCTTTGGTGCTTGTTTTGAGGAAGAGCCCTTCTGTTGGAGACAGTTTTTTTTTTAATACATACTGCATGGGTTTTAGGAGATAAGATGTGGAAGAGGACTTCCTGAGACATTTTGTGGGTGTTTCTTAAACATCTACTCTCTCATTTGGTGATGCAGAAAAGCATGTAAGATATGGCTCGTACTCCCAAGAAGCTTATGATCTCATTCTTTCATAGTGGCTGGGGGTGGAATGGTGCCACCTTGCCCTATAAACTCCTTCAACCTTCCCTGCCACTCCATATAATATACAGTCTCACTAAAAATGGTATACTTACTGTACAAATACAGCTTTCAACCAAGTTCCCAAGAAGGTTTCTCACCCGGTGGGGAGAGGAGAGGGCCAAGGACACTAGGTAGAGATGGTAAGAGGTGTGTCCTTATGGCATTAAAGGATAGGGCCTAGGCAAATCTGTAATCTTGAGCTGAAAGAGAAGTTAGGTGGAAACCTGGAGGTGGAAGGTATACAGTGGTAGTTAACAGCAAGTAGAGGCTCTAGTTTTAGGCTGCCTGGATTTGAATCCAAGCCCCACCACTTGCTAGTTTTGTGGCTTTGAGCAAGTTTCTTAACCCCTGGAAGCCTTAGTTTACTGATCTGTAAAATGGTGATAATCAAAGTCCCTATGTTAGAAGTTTGCTGTGAGGATTAAATGAGATATAGCACATAATAGCACTTATTAAGCACAGCAGACAGTTGTTAATGCTGCTGCTGCTGCCGTTACCAAGAGAGAATAATTCATGAGCCATGGAGTAGAATGTGACTGTAGCAAATGAAGAATGGCTTATCTATAGCTGGGTTTTAAAAAATTGTCTAGGGCAGGGATTGGCAAACTTCTGCTGTAAAGGAGCCAGATAGTAAATATTTTAGGATTTGTGGGCCAAGTGTTCTCTCTAGCACCCACTCCATTCTGCTGATGTGGCACGAAAGCAGCCATAGACAATAGGTAAACAAGCCCAGCTGTGACCAGAAAAACTTTATTTGCAAAAATAGGAGACAGACAGGATTTGGTCCTTGGGCTATAGTTTGCCAACCCATGGCCTAGGGTGTTAACTCTGCCCCTTCTGGCTCTTACAGGAGAGAGAACATGGTCTGGCTCTTTGGAGCTGCCTAATAATAGACTGGGTGGTCTGTAATGCTAAGTATTGCAGAGAGGCTGAGGACAAGGAAGATGGCTGAGAAAAGATTATATGACCTAGCAGTTAGGAACACAGCAATTACCTTGAAAAGCCATCTCAGAAAAATATTAGAAGCTAAATCTATTCGGTTTGTGCAAAAGTAATTGCATTACTTTTAATGGCGAAAACCGCAATTGCTTTTGCACCAACCTAATAGATTTCAAGGGAAGGCAACCACTGTAGAAGTTTTGGTAGTCATAGGAGAGAGAGGAAGGGTAAAGGCTTGAAATGATAACAAGGACAAGGGACAGCATTTTATTCTTCAGGGTAGGGGAAACCTAATACAATTTGTAACCAGAGAAGAAAGAACTGACTCTGGGGAGGAGGAGAGGTAGAAGGAGAAGACAGGATTGAGGGTACCAGTGTTAGGTGAAATAAGACATGTACACGTGAGACAACCAGAGAATAAGCCAAACTGTATAACATCATGGTAATTTTCCGAATCCAGGCAGTAACAGATAGAAGGCAGAGAAGATTGTGGACCGGAGTGGCCAAGAGTAGGTGTCAAACAATGTGTTAGATTTGACTAGATTCTTCAA
CATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAAGGTCATTTGCCTTTAACTTGTTGCTGTGTATCATTTAAATTAGGGAATCACAATTTCTGGTTTGTATAAGGGCCACGTGGAGAGCTTATTAAAAAAATAGTTGTCCAACCCCAGAGATTCTCAGTAGGTGGTCCTCTGGTGAGTCACTTCTTCAACCCACAATAGGTATTATTTTTTTTTCTTTCTTACTATTTCTGCTTGGACTCCAGATTTGAAATGTGATTTTTTAAGCTGCCCCATTCTCTCCCAAGTTCATGATTTCCTCCTCTTAGAACCAAGCAAATCTCTTGAGTAGTCAGGTGGAGATTGACTTTCGTTCTTAAGCCTTTCCAGCTCCTGACTGGTTTTCTCACGACCACCTGAACCCAGGAGTCAGGTTGTCCCAAGTACAGGTTTTGAGAAATTCCTTCTTAATCCATGGATATTTGGTGATTCCACCGAGTTTTCTTGTCACAACTCGAAAAGTTGATCACTATAAAGCATTTCATGTTTTTTCATAAGATTTCTGCCATTTGGGAACATATACACATATTCTTTCTATCGTATGTATCAATTCATCAGGCGGGCTTTAGAATTTCTGCCATCTGTAATTTACCAGTTTGTCATCAGTTGCATATTCAACATGTTATCCAGATTATGAGAGTCACCTGTGATATGACAAGTGCACACTTCCTTTTATATTAATGGTTGCATCTGAGGCAAATTATGCCAATTAGTAATCCAAAACCAGTTAAAGTGTGTTTATCAAATAGCCCAAGGGGGCTTTTTGTTTTATAGCATTAACTGTTCATTATCAGAAGGGAAACACTGTCACAGGGAAAAATGTAACTTTGTTCCTTTTCAGCACTGAAATTGGAAACTTAGAGTCATAGGTCAAAACTATTTAAAAAAATGCTTTTGAAATTCTCAGAATAATTTATTGTCTGTGACGTTACTGTAGATAAGGTGGGGTAACTAAGTTGCCATTTCAAAGATAAGAAATAGAGGTACAGAGAAAGGGGAGGTACCAGTGACAAAACTGTCAGAATGTTGATTTTTAAAATGTAGGCCCTGAAGGGTTAAATTGTCAAGTCTAGGACTTAAAAGATAAAACTTTCTGCACCTCCTGATAGCCTTGATGTTACCAGCAGGTTGTTGAAAATGAAAAGAGATACATCATTGCTATCACTTAGTATCGGTGACCACTGTACAATTAGGCGTTTGTGGGATGAAGTCTGGGAATTTGCCTGACCTGAACCACAGCCCCCAGGTAGTAAGCCTCAATTTGTACTTTTATCACTCAAATAAGCCTGTGTTTATTTATTCTTTGAAAAACATTGAAACTATTTGCTGTGAGTCAAGAGATTGCCCTTGGAATATCTGATGTCCAGGATAGAAAGATACCACTGCAATAAGCAAAACAAGTTGATGCTATAAGAAATGATGGCTTGGGAGGAAGCTCTGAATAAGGAACTTGTGGGCATTACAATACTGTAGATGAAGGTGGGGTTTCGGTAAACCTCAAAGTTGTTAGTGAAACTGGTTCAGCTAAAGATTATGTGAAAAGTAGCTCTAAATTGGTCTCTATTCTCCAGTGATTTGTCTTTGTATTTCTTTGTTGAACAGTTTTTAAGTGAAAAAATGGTGTGTGTAGAGTGTACCAATGTTTTCTCATTTTCCCCTAGATTACCAATAAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGTCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTATGGTAAACTGTTAGTTTTCAAAACAAATCTCCTAAAATTGTGGTATGTCTCTCCCGTAAGTCCTGAGCTGAGTCACGTACTGTGTTTTCCTGTTTTTCTACCTTAAATGAATTGCTGGTGAACCTTATAGAAGCTCAATGTCCCCATCTGTAAAGGGTACTAATACCTGCAATTCTTACCTTGAATAAATGAGGAAATGCATTTAAATGCATTTTGTACACTATAAAATACTGTATCCATTTTAAGGTGATGTTAGCCCTTTGGTGCTTGTTTTGAGGAAGAGCCCTTCTGTTGGAGACAGTTTTTTTTTTAATACATACTGCATGGGTTTTAGGAGATAAGATGTGGAAGAGGACTTCCTGAGACATTTTGTGGGTGTTTCTTAAACATCTACTCTCTCATTTGGTGATGCAGAAAAGCATGTAAGATATGGCTCGTACTCCCAAGAAGCTTATGATCTCATTCTTTCATAGTGGCTGGGGGTGGAATGGTGCCACCTTGCCCTATAAACTCCTTCAACCTTCCCTGCCACTCCATATAATATACAGTCTCACTAAAAATGGTATACTTACTGTACAAATACAGCTTTCAACCAAGTTCCCAAGAAGGTTTCTCACCCGGTGGGGAGAGGAGAGGGCCAAGGACACTAGGTAGAGATGGTAAGAGGTGTGTCCTTATGGCATTAAAGGATAGGGCCTAGGCAAATCTGTAATCTTGAGCTGAAAGAGAAGTTAGGTGGAAACCTGGAGGTGGAAGGTATACAGTGGTAGTTAACAGCAAGTAGAGGCTCTAGTTTTAGGCTGCCTGGATTTGAATCCAAGCCCCACCACTTGCTAGTTTTGTGGCTTTGAGCAAGTTTCTTAACCCCTGGAAGCCTTAGTTTACTGATCTGTAAAATGGTGATAATCAAAGTCCCTATGTTAGAAGTTTGCTGTGAGGATTAAATGAGATATAGCACATAATAGCACTTATTAAGCACAGCAGACAGTTGTTAATGCTGCTGCTGCTGCCGTTACCAAGAGAGAATAATTCATGAGCCATGGAGTAGAATGTGACTGTAGCAAATGAAGAATGGCTTATCTATAGCTGGGTTTTAAAAAATTGTCTAGGGCAGGGATTGGCAAACTTCTGCTGTAAAGGAGCCAGATAGTAAATATTTTAGGATTTGTGGGCCAAGTGTTCTCTCTAGCACCCACTCCATTCTGCTGATGTGGCACGAAAGCAGCCATAGACAATAGGTAAACAAGCCCAGCTGTGACCAGAAAAACTTTATTTGCAAAAATAGGAGACAGACAGGATTTGGTCCTTGGGCTATAGTTTGCCAACCCATGGCCTAGGGTGTTAACTCTGCCCCTTCTGGCTCTTACAGGAGAGAGAACATGGTCTGGCTCTTTGGAGCTGCCTAATAATAGACTGGGTGGTCTGTAATGCTAAGTATTGCAGAGAGGCTGAGGACAAGGAAGATGGCTGAGAAAAGATTATATGACCTAGCAGTTAGGAACACAGCAATTACCTTGAAAAGCCATCTCAGAAAAATATTAGAAGCTAAATCTATTCGGTTTGTGCAAAAGTAATTGCATTACTTTTAATGGCGAAAACCGCAATTGCTTTTGCACCAACCTAATAGATTTCAAGGGAAGGCAACCACTGTAGAAGTTTTGGTAGTCATAGGAGAGAGAGGAAGGGTAAAGGCTTGAAATGATAACAAGGACAAGGGACAGCATTTTATTCTTCAGGGTAGGGGAAACCTAATACAATTTGTAACCAGAGAAGAAAGAACTGACTCTGGGGAGGAGGAGAGGTAGAAGGAGAAGACAGGATTGAGGGTACCAGTGTTAGGTGAAATAAGACATGTACACGTGAGACAACCAGAGAATAAGCCAAACTGTATAACATCATGGTAATTTTCCGAATCCAGGCAGTAACAGATAGAAGGCAGAGAAGATTGTGGACCGGAGTGGCCAAGAGTAGGTGTCAAACAATGTGTTAGATTTGACTAGATTCTTCAA
Task1_train_29909
A genomic change on Chromosome X affects CLCN5 (chloride voltage-gated channel 5). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Dent disease type 1
TGTTCCTGAGTCTGTGGTACCAAAATTTTCTTGAAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAACATCATGTTGTACACCTTAAATACATACAATAAAAAAATTTTAAAAAGCAAAGAAAAAAGCCAAACACCCAAAATTTTGTTACTATAAACTATGAGAATTTGACACCAAGGTAAGTAGCCAAAGGTGAATTTAGTGGAACTTTAGATCCGCTCTTCACTTCAGATGTGAAGCCAAGGTTCAGCCATTCCAAAAAAGCTGGGGGGGTGCTCTTAAGACTCTTGGTAAAATGACATGGAATCATATATATTTGACTACAAAACCCATCAAAGCACTCATATAGAAAGAGAATTTTGTTTCATGGTTTTCCGTTTGCTCTTTTCCTTGTTCATCCTTAGAATCCATGGTAAATTTCCTTTGGGTGTAGCAAAGCATCTCATTTTCAGTACTAAGTGGCCTGACAGTGTTTCAGTAGTTGACAATTCAGAAAGAAAAGTCTTGAACAATTTAATCTCGGTGGTTTTTTTTTTTTTTGGACTTTTTTTCCTGAAAAAACATTACTCAGAAGAGCTGCATGTCTCACTGAAGCTGTCTAGGCTAAAACAAGCTTCTTTTTCCCCCTGTTCCAGGGAGCCTTTGCCTACATAGTCAATTATTTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGGTGAGTCTCTTAAAATGGTTTATAAATGGTTACAATATGAATACTTTTTGGTTAAAATCTCTTAATATGTATTCCAGCACATACCACAATTTGATGAATGTTAAACAGGATCAGATCCTGAGGCCATCTAAGACCTAGGTCTTTCCACAAGTCCCTCTCAGCCTGGGCTACCAGGAAATTAAAGGGAGTTGATTCTTAGCCTCCTGAGGGTTCCTGTTGAGCCAGGCTCTGGAAAACTTCCCCTGTTCCCTATCCAAAAAGCTTCCAGAGTATATCCCAAGATTCTGACCTGAAAAAGCAGTGTTATTGTCAGCTTTTTCAGGGCAAAAGAAAGAAAATCATTTGGTACCTTTCCCACAATATGATTTAGGCTACATGGGATGGTTAAAACCCTGTTTCTAACTACTTTTGGCTTAGATTGCTTGACAGTGACTAAAGACACTGAGACTTAGGTTACCAGGATGACTTTGCCCTTCCCTGTTTCCTGACCAGGTAATAAGTCACAATTTTTTTTTTTTTTAAGCCAGGGAATCAAGACTATACCTAACCTTTAAGGTTGTTTCAGGGACATTAGCCTTGTCCTCTCAAAACATGCCTCTTGGGCTACCACGTTGTAACATGAGGAAAACACCTATCCCTCCCTCTCCAGCTCCTCCTTCATATATGCACACTCTCATACTTACAATACATCCTTGCCCAGCTATCACTCCCCTCCCCCTAAAAAGGGGGAACATGAAAGCTTAAAGAACAGTTCTTGCTTTCTTGGGCTCCTGGGCTCTCTTCCAAACAGGGATCACTGTAGGTCAAGCATTTATATGTCACTTATTCAAAAGGTGCAGTTTCTATAATGAGGTCCAGATTTTTGCTTCTTAGCCTTGTTGACTTCCTTAGTCTATATTCAATCTTTCTGTGTTTAACCTGCAGATAAAAACTATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTGGCAGTGTCATCTGGCTTGAGCCTGGGCAAAGAGGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTAATAATGAATGGCCTTAATAGTCTCTTTTTGGTTGTGAGCATAAATGATACAATCTTAGGGGGTGAGAATTTGAGAGTTCTACCAATGTTAATGCAAACACCCTTTGACCCAGCAATTCCACTTGTAGGAATTTATCCTACAGATATCCTAGCATGTGTGTGCACAAAGGTGTATAAGGATAGTGCAGCGTCTGTCAACATAGTAAAAAACTGAAGCAACAAAAATGTCCATCAATAGGGAACTGATCTAATAAATACTATTCTGTTCATACTGTAGAATACTTTGCAACCATTAAATGAGATAACCTTTTATATATTGACTTGGAATTCTGGCTATGAAACACCATTTGATTTTAAAAGCCAGTTTCTGAGTAATGTATATAATATAATTCATATTTTTTAAAAGTGTACATGCACTTATTGATAGAAAATGTCTGGAAGGTGGTTTTACCCCAAACTGGTTTTACTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGACTGCAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCGACCTCCCTGGCTCAGATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAAACTACAGGCACGCACCACCAAACCCAGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGCGCTCAAGCAATCCTCCTCCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGACACGATGCCTGGCTCACGTCAAACTGTTAAAAATGTTTATCTATGGTGAGTGGGAGAGTGAGGGGTAGTGAAGGAGAAGTAAGGATTTTAACTTTTTATTGTATGTAATTCTATTCAAGTATATATTGCTTCTCTTACAAAATAAGTTACAGAAAGAATAGATTTTAAAAGAAGTTGTTTATTGCTATGGAATAGTACATATAAGTGCAGTGTATGTTTCAGATGTCGGTTTTTTCACTTTCTATTTCTATCTAACACTATACTTGAATTAGTTTCTCTCTGTATTGGACCTCTCTCTACCTTTTGTTTCAGCCCAGCTAAATTAGTCCCGCCATGGCACCTCTGTAGTGGCTGTCATGTTTATGCAGTTGTTAATGTATGCTGTTTTGAGGAGGAAGGACTTTTTTAAAAAAAAGTTCCAAGTCATTGGTTTACTTTTTTCTTGCTATAATTAAGGGCCTAAGAGAATAATGGCTCTTGCTTTATTTTCTTTGAATTACAAAGAAGTCACATATGGAATGGGTCAAGACTAAGGTCATTTCACTTAAAAGGATTTTTCACAAAACAGGAACCTAATGATTTCTTATGAAAACCAAAAAAAAAAAAAAAATTAACCACAAGACCCAGAAGGAAACTCAAAGATATTGAGATTTCAAATATAGAATAAATTTTGTTGGTTCAAGGGAGAAAGGTCCTGGCACTGTTAGAAAGGAGAGGAAAGCTAGCAGGAGAGAAGATGGGGAAATATGAGTAGATTGTTTAACTACCTGTCATGCAGTAGAGGGACTTAAAGGTAGTGTTAAGTTGGTGAGGTTGTTAAATGGGAATGACATTCAACAGAAGGGAAGAGTTGAGAAAACATTTTTTTTCTAGAAGGGCTTTATTAGAACAGTTATGAAATTTGAATGAGATTTATAGATCAAATAACAGTTATTAGTGTAAATTTCCTATTTTGATCATTGAACTGTGATTATGGAAGAGACTGTCTTTGCTTTTAGGACATAAAAGCATTTATATCCTACATGCACTGAAGCATTTCAGGGTACATGAGCCTTATATGTGCAACTGACTTTTCTGAGTGAAATTCCAATTCTTCAGAAAAAAATAGAATCATAAAACAAATGCAGTAATGGTAGCAATTACAGAAGCTACATGAAGATATGTAGGACTTC
TGTTCCTGAGTCTGTGGTACCAAAATTTTCTTGAAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAACATCATGTTGTACACCTTAAATACATACAATAAAAAAATTTTAAAAAGCAAAGAAAAAAGCCAAACACCCAAAATTTTGTTACTATAAACTATGAGAATTTGACACCAAGGTAAGTAGCCAAAGGTGAATTTAGTGGAACTTTAGATCCGCTCTTCACTTCAGATGTGAAGCCAAGGTTCAGCCATTCCAAAAAAGCTGGGGGGGTGCTCTTAAGACTCTTGGTAAAATGACATGGAATCATATATATTTGACTACAAAACCCATCAAAGCACTCATATAGAAAGAGAATTTTGTTTCATGGTTTTCCGTTTGCTCTTTTCCTTGTTCATCCTTAGAATCCATGGTAAATTTCCTTTGGGTGTAGCAAAGCATCTCATTTTCAGTACTAAGTGGCCTGACAGTGTTTCAGTAGTTGACAATTCAGAAAGAAAAGTCTTGAACAATTTAATCTCGGTGGTTTTTTTTTTTTTTGGACTTTTTTTCCTGAAAAAACATTACTCAGAAGAGCTGCATGTCTCACTGAAGCTGTCTAGGCTAAAACAAGCTTCTTTTTCCCCCTGTTCCAGGGAGCCTTTGCCTACATAGTCAATTATTTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGGTGAGTCTCTTAAAATGGTTTATAAATGGTTACAATATGAATACTTTTTGGTTAAAATCTCTTAATATGTATTCCAGCACATACCACAATTTGATGAATGTTAAACAGGATCAGATCCTGAGGCCATCTAAGACCTAGGTCTTTCCACAAGTCCCTCTCAGCCTGGGCTACCAGGAAATTAAAGGGAGTTGATTCTTAGCCTCCTGAGGGTTCCTGTTGAGCCAGGCTCTGGAAAACTTCCCCTGTTCCCTATCCAAAAAGCTTCCAGAGTATATCCCAAGATTCTGACCTGAAAAAGCAGTGTTATTGTCAGCTTTTTCAGGGCAAAAGAAAGAAAATCATTTGGTACCTTTCCCACAATATGATTTAGGCTACATGGGATGGTTAAAACCCTGTTTCTAACTACTTTTGGCTTAGATTGCTTGACAGTGACTAAAGACACTGAGACTTAGGTTACCAGGATGACTTTGCCCTTCCCTGTTTCCTGACCAGGTAATAAGTCACAATTTTTTTTTTTTTTAAGCCAGGGAATCAAGACTATACCTAACCTTTAAGGTTGTTTCAGGGACATTAGCCTTGTCCTCTCAAAACATGCCTCTTGGGCTACCACGTTGTAACATGAGGAAAACACCTATCCCTCCCTCTCCAGCTCCTCCTTCATATATGCACACTCTCATACTTACAATACATCCTTGCCCAGCTATCACTCCCCTCCCCCTAAAAAGGGGGAACATGAAAGCTTAAAGAACAGTTCTTGCTTTCTTGGGCTCCTGGGCTCTCTTCCAAACAGGGATCACTGTAGGTCAAGCATTTATATGTCACTTATTCAAAAGGTGCAGTTTCTATAATGAGGTCCAGATTTTTGCTTCTTAGCCTTGTTGACTTCCTTAGTCTATATTCAATCTTTCTGTGTTTAACCTGCAGATAAAAACTATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCGGGCAGTGTCATCTGGCTTGAGCCTGGGCAAAGAGGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTAATAATGAATGGCCTTAATAGTCTCTTTTTGGTTGTGAGCATAAATGATACAATCTTAGGGGGTGAGAATTTGAGAGTTCTACCAATGTTAATGCAAACACCCTTTGACCCAGCAATTCCACTTGTAGGAATTTATCCTACAGATATCCTAGCATGTGTGTGCACAAAGGTGTATAAGGATAGTGCAGCGTCTGTCAACATAGTAAAAAACTGAAGCAACAAAAATGTCCATCAATAGGGAACTGATCTAATAAATACTATTCTGTTCATACTGTAGAATACTTTGCAACCATTAAATGAGATAACCTTTTATATATTGACTTGGAATTCTGGCTATGAAACACCATTTGATTTTAAAAGCCAGTTTCTGAGTAATGTATATAATATAATTCATATTTTTTAAAAGTGTACATGCACTTATTGATAGAAAATGTCTGGAAGGTGGTTTTACCCCAAACTGGTTTTACTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGACTGCAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCGACCTCCCTGGCTCAGATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAAACTACAGGCACGCACCACCAAACCCAGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGCGCTCAAGCAATCCTCCTCCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGACACGATGCCTGGCTCACGTCAAACTGTTAAAAATGTTTATCTATGGTGAGTGGGAGAGTGAGGGGTAGTGAAGGAGAAGTAAGGATTTTAACTTTTTATTGTATGTAATTCTATTCAAGTATATATTGCTTCTCTTACAAAATAAGTTACAGAAAGAATAGATTTTAAAAGAAGTTGTTTATTGCTATGGAATAGTACATATAAGTGCAGTGTATGTTTCAGATGTCGGTTTTTTCACTTTCTATTTCTATCTAACACTATACTTGAATTAGTTTCTCTCTGTATTGGACCTCTCTCTACCTTTTGTTTCAGCCCAGCTAAATTAGTCCCGCCATGGCACCTCTGTAGTGGCTGTCATGTTTATGCAGTTGTTAATGTATGCTGTTTTGAGGAGGAAGGACTTTTTTAAAAAAAAGTTCCAAGTCATTGGTTTACTTTTTTCTTGCTATAATTAAGGGCCTAAGAGAATAATGGCTCTTGCTTTATTTTCTTTGAATTACAAAGAAGTCACATATGGAATGGGTCAAGACTAAGGTCATTTCACTTAAAAGGATTTTTCACAAAACAGGAACCTAATGATTTCTTATGAAAACCAAAAAAAAAAAAAAAATTAACCACAAGACCCAGAAGGAAACTCAAAGATATTGAGATTTCAAATATAGAATAAATTTTGTTGGTTCAAGGGAGAAAGGTCCTGGCACTGTTAGAAAGGAGAGGAAAGCTAGCAGGAGAGAAGATGGGGAAATATGAGTAGATTGTTTAACTACCTGTCATGCAGTAGAGGGACTTAAAGGTAGTGTTAAGTTGGTGAGGTTGTTAAATGGGAATGACATTCAACAGAAGGGAAGAGTTGAGAAAACATTTTTTTTCTAGAAGGGCTTTATTAGAACAGTTATGAAATTTGAATGAGATTTATAGATCAAATAACAGTTATTAGTGTAAATTTCCTATTTTGATCATTGAACTGTGATTATGGAAGAGACTGTCTTTGCTTTTAGGACATAAAAGCATTTATATCCTACATGCACTGAAGCATTTCAGGGTACATGAGCCTTATATGTGCAACTGACTTTTCTGAGTGAAATTCCAATTCTTCAGAAAAAAATAGAATCATAAAACAAATGCAGTAATGGTAGCAATTACAGAAGCTACATGAAGATATGTAGGACTTC
Task1_train_29910
Here is a genetic alteration in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; X-linked recessive nephrolithiasis with renal failure
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTTGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
Task1_train_29911
Here is a genetic alteration in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Dent disease type 1
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTTGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
Task1_train_29912
Assess the clinical impact of this variant on gene CLCN5 (chloride voltage-gated channel 5), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTTGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
Task1_train_29913
Gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypophosphatemic rickets, X-linked recessive
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTTGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
Task1_train_29914
This variant affects gene CLCN5 (chloride voltage-gated channel 5) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; CLCN5-related disorder
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTTGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTG
Task1_train_29915
Consider a variant on Chromosome X in gene CLCN5 (chloride voltage-gated channel 5). Determine its clinical classification and disease relevance.
Pathogenic; Dent disease type 1
TGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTG
TGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTCGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTG
Task1_train_29916
This mutation occurs in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Dent disease type 1
AGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGC
AGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGTTGTATGTGGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGTTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGC
Task1_train_29917
Gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
GGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGA
GGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCCTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGA
Task1_train_29918
Here is a mutation in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Dent disease type 1
GGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCT
GGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGCACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCT
Task1_train_29919
Located on Chromosome X, this mutation impacts CLCN5 (chloride voltage-gated channel 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; X-linked recessive nephrolithiasis with renal failure
TTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTG
TTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGAGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTG
Task1_train_29920
This sequence variant lies in CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Dent disease type 1
TTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCG
TTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTCCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCG
Task1_train_29921
This variant lies on Chromosome X and affects the gene CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Dent disease type 1
TTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGA
TTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAAAACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGA
Task1_train_29922
This alteration in CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Dent disease type 1
AATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGAGTTCTGGATGTAAAGCGGGAAGGACATTACAGACCATGGAT
AATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGTGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGAGTTCTGGATGTAAAGCGGGAAGGACATTACAGACCATGGAT
Task1_train_29923
The gene CCNB3 (cyclin B3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Pregnancy loss, recurrent, susceptibility to, 1
CATTTAAGAGAAAATGGCGTGATGTTGATGGCAGTGAGTCTAAATGGTCCAGGTGAAATAGTAATTTGGGAAGTAGCAGTATAAAAGTGAGTAGCTGACCTTTTCTTCATGACCATAATCCATCTAACTAACCTCTCTGATTCCCCTTCCTTAGGTGCTAACTGATCTTGTTCAACTTTCATTTTTCCTTCAGCTAGGCTAGTTGTAGGAAGCCTTAGGGTTTGGGAGCAGAGAGTTGGCAACTTTTACCAAGGATTTCAAAGAACTTTAGAACTGTGGGTTTGTTTCTGTGTTGGCTCCCTCCCCAGCTCCTGCCTTCCTCTCCTCCCCAAACACATACTGGCTCTTACCCCCTCCCTCCCTCCCTGCCTCACTCTCTCCCTCCTTAACTTGCTCCCTTCCTCCCCTCCTTCTTTCCCTGTCACCTGCCCTTCAGTGATTGTTTTCCCTCACTCACCACCCCACTCTCCTTTGTTGCCCCTCACTCACCTGCTCACTTGAGCCCTCCCTCACTCTGTCCCTTCGTCCTGTGCCAGCTTGCTTGCTCCCTCCTCCCTTCCTCCTGCTTTTCCTCCCTTGCTCACTCCTTCCCTTGTTTCCTCTCTCCCTCCCTCACCTGCTGGCTCCCTCTTTCCTTCCCTCCTTGCTTCCTTCCCAGGCTCCCTCTCTCACTTGGTGGATAGATTCCTCTCTCCCTGGCTAGTCTACACCCTCCCTCCCTCGGTGGCTTGCTCTCTCCTTTCCTCTCTTTCCCTTGCTCCCTCACCTGCTCTCTCCCTCCCTCACCTGCTTTCTTCCCTCCCAGGCTCTGTCCTTCCCTCCCAGGCTCCCTCTTTTTCTTCCTTGCCCACTCTCTCCCTTCCTTTTTTACTCTGGGTACTTCTTAGCAAATCCTGGGAGTTGGAGCACCCTTCCTCTGTTGGCCAGGACAGAGGGCCCCTACCAAGTCCATGGAGGAGGGGTGTCTTCCTCTCACAGGATTAAGAAGTACAGAAAGCCTTTTGTTTAGGGGAGGTGTGGAGATGGCATGAGGAGAGAAAGGAGACAGTAGCCATTGCACAGAGCAGCGGAAGAGAGAGGTTCCTGCCCTGGTGTTGCCACTAGCTTGCCGTGTGAACCTGAGCACATCACTTTTCTCTGAGCCTAGGTTTCCTTGTCTGCCAAACCAAAGGGTTGGTCCTGTCTGTCATCCAAAAATAGGGGAAAGGTGGGGGAAGAAAGCTGTTGCGGGCAGTAAGCTGCAGGTAGGGAGAAGAATTAGGGGCCTTCCTGTGTCCTCATTGTTTCTCCAAACCAATGTTTGACCTCCAGAGGGCAGAGCCCTGGAAGGTGCTCCCTGGACAGAGGTTCTTCTCACCCTCAGCCTGGCCTGGCCCTTCCTTGTCTGACCTCTGGGTGCCTCCGCACACTCTGCCCACCACAGACTTTTGTCTCTGCTTAGGTTCCCTCTATGCCTGTCTGCCTCTCCACTTCTCTCACTGCCAGGTACCCTGTATTGCCCTCCTCAAACATCCTTACTCATTCCCTACACTAGGACACAAAATACAGGCTTATTTTCTATCTCTAGCTCCCATTTCTGTGGCTTCCTTCTGTCCCTCCCTCCAGAGAAGGCCTTAGATTTCAACATTCGTGGTTCTCAGAGGGCAGATGGCTGCTCCTAGGCCCTGTGCCCCCATTATGTTGCTTCTGGCACTGTAAGAATCCACCCCCAGGAGGTCCTATCCTCTATCTGGTGGTGGTGGTGGTACAGTTTTGGGGCAGGCCTCTCCTGTCCTTTCTTTGGTTTACTTTTTCTGATGAGCCACTCACATCAACCAGAAGCTGAGTCTCAGAGATACCCTGAAGATTTATGCCAGGAAATCCTTCACCCTTCTCCCTGCTGACTTTTACCTCTAAGCAGAAAGGTTGGGTTGTCTGTCTGGTTGTCACCTCCTCTCCTCTCCACCCATAGGAGCACAACTCACCTCGTGTGGATGACTTTGTGTACATCTGTGATGATAATTATCAGCGATCTGAGGTACTCAGCATGGAAATCAACATCCTGAACGTCCTCAAATGTGACATTAACATTCCCATCGCCTACCATTTTCTGCGCAGATATGCTAGGGTAAGAGAGAAGAGACACATCTTCATTCTCCCACTGCTGAGTTAGTCTCCTTTATACCCAGAGTAGCTGCCTTGAGTGGTAGGAAAGGGGAAAGGGACAACAGGCAGCAGGGAGCTTTCTCCTTCCATCCAATCTCCTAGGTTAAAGCTTGGCAATCTTTATGAAATAGTGGGAGGTGGGTGGGGGTGAGTTGCAGATTTCCACAGTGTGCCTATAAGGTTTTGAAGTGAGGCCAGAGTTGGGGAGGAGAAACGTTTCTTTTATCAGGGAGAGACACATGGAAAACTTTGTGGGGGGATGCTGGCAATATTCTCATTCTTTGCCTGAGTATTGGTTACAAGGGAGGTCACTTTATAATTCATTGTATTGTGCAAATGAGTGCGATGTACTTTTCTCTTTGTGTGTGTGATAGGTTGTAATTTTTAAAAAATAAGTTTAAATAAGAAAAGGGAAAAGGTTGTTTTGAGGTATGGAACACCTTCTAGGGAGGACCAGGAACAGAGTCACGGTGGGAGGACTTTGGCTCTTTAAAGAATGACCCATATAGCAAGGGGGGATGTGGGCCAGTACCATACACACAGTTGGTAATTTGATTAAAATCCTAAAGGTGGCAAATCCCACTGACTGTTTCAGAATCCCCCCTAAAGAGTCTGTTTTTGTGGGTAGGGAAGATGAAGTGAGTTACGGTTGCAGGAGAAAGGCACATTACTCAAACAGAGGGCCACTGAGGCTCGGGATGATGTAACTGGAGAGGGAGTCCTCTGCTTGGTGCCAGTTTTCTAAATTGATTTCTGAGCCAGTCTTCTCATTGCCTTTAGTGTATCCACACCAACATGAAGACACTGACCTTGTCCCGCTACATCTGCGAGATGACCCTGCAGGAATACCACTATGTCCAGGAGAAGGCTTCCAAGCTAGCTGCTGCCTCCTTACTCCTGGCCCTCTACATGAAGAAGCTCGGATACTGGGTAAACACTTGCGAGATAGGGGTATAGGGGTAGAGATTTAAAAAGCAGAAGGTCAGCTCATGGGGAAGGTGTAAATTAAGGCCACGGGAAACTCTTGGGGACAAAACTGACACATATTCACCACTGTGAACTCTAACACCTGGACAACTTGGGGCAAGGGCTTCTACAGCAATGGTTTTGAATTATGCCATTTTTCATAATCAAAGTACCCTTTGTTCCAAAGAAAGCTCACCTGAAAGCCCAATATTACATACCAGACTACTGTGAAGGTATTCTGGTTGTCATATGGGGTAGTGTGACCCTACTTCTTATCCCCAGCCCTGTTCCCCTCTTGCCTCTTGCAATCCCCTCAGCAAGACTGGCCCCTGAGGCAGCTTGTTGGAACAGGGTTTGAAAAGCACTGAGCCAGAGAAGAGTAGTGAAAGCAACTGTCTGTGTCTACAAAAGTGGCACTCAGGGGCATGACTATAGTGTTCTTCTCTGAAGAAGGCTCTCAAAGCCTCCTGCTCCAATACAAATAAAACTCATATTTGATGCTTTCTCAATTTTATGAAAAGTTGGGGGTAAAATCAACTTTAGATAATTTCGCATTCTTACTAATGATATGTATAATATATAATCCAAGTAGCAGGAGTATGCTTGCAAATGCAGCCCCTCTGCTCAACCACTTCTGAGCTCCTCCTACCTAAAAATCCTGGAGCCACTGAGGGAAGAACCTCTGTGGGCTGAGAAAGAACCACATAAAGTAGTTATGTGAACTTGGAGAAGCCATACTGAAATTTCTTGAAACAGAGAAAGCATTCAATAAATGATAGTGATGATGAAAAAGAATAAATAATAATCATGACTGGCATTTATTGAGTGTTTAGACAGTGATCTAAGCACTTTGTGTATTAACTCATTTAATCTCCACAACAACCCCACATGATAGTACCGTTATCCCTGTTTTGCAGATAAGAAATAACTCCCATGTTTACACAGCTGATGAGAGGTGGAGCTAGGCTTTGGAAACTAGGAGTGG
CATTTAAGAGAAAATGGCGTGATGTTGATGGCAGTGAGTCTAAATGGTCCAGGTGAAATAGTAATTTGGGAAGTAGCAGTATAAAAGTGAGTAGCTGACCTTTTCTTCATGACCATAATCCATCTAACTAACCTCTCTGATTCCCCTTCCTTAGGTGCTAACTGATCTTGTTCAACTTTCATTTTTCCTTCAGCTAGGCTAGTTGTAGGAAGCCTTAGGGTTTGGGAGCAGAGAGTTGGCAACTTTTACCAAGGATTTCAAAGAACTTTAGAACTGTGGGTTTGTTTCTGTGTTGGCTCCCTCCCCAGCTCCTGCCTTCCTCTCCTCCCCAAACACATACTGGCTCTTACCCCCTCCCTCCCTCCCTGCCTCACTCTCTCCCTCCTTAACTTGCTCCCTTCCTCCCCTCCTTCTTTCCCTGTCACCTGCCCTTCAGTGATTGTTTTCCCTCACTCACCACCCCACTCTCCTTTGTTGCCCCTCACTCACCTGCTCACTTGAGCCCTCCCTCACTCTGTCCCTTCGTCCTGTGCCAGCTTGCTTGCTCCCTCCTCCCTTCCTCCTGCTTTTCCTCCCTTGCTCACTCCTTCCCTTGTTTCCTCTCTCCCTCCCTCACCTGCTGGCTCCCTCTTTCCTTCCCTCCTTGCTTCCTTCCCAGGCTCCCTCTCTCACTTGGTGGATAGATTCCTCTCTCCCTGGCTAGTCTACACCCTCCCTCCCTCGGTGGCTTGCTCTCTCCTTTCCTCTCTTTCCCTTGCTCCCTCACCTGCTCTCTCCCTCCCTCACCTGCTTTCTTCCCTCCCAGGCTCTGTCCTTCCCTCCCAGGCTCCCTCTTTTTCTTCCTTGCCCACTCTCTCCCTTCCTTTTTTACTCTGGGTACTTCTTAGCAAATCCTGGGAGTTGGAGCACCCTTCCTCTGTTGGCCAGGACAGAGGGCCCCTACCAAGTCCATGGAGGAGGGGTGTCTTCCTCTCACAGGATTAAGAAGTACAGAAAGCCTTTTGTTTAGGGGAGGTGTGGAGATGGCATGAGGAGAGAAAGGAGACAGTAGCCATTGCACAGAGCAGCGGAAGAGAGAGGTTCCTGCCCTGGTGTTGCCACTAGCTTGCCGTGTGAACCTGAGCACATCACTTTTCTCTGAGCCTAGGTTTCCTTGTCTGCCAAACCAAAGGGTTGGTCCTGTCTGTCATCCAAAAATAGGGGAAAGGTGGGGGAAGAAAGCTGTTGCGGGCAGTAAGCTGCAGGTAGGGAGAAGAATTAGGGGCCTTCCTGTGTCCTCATTGTTTCTCCAAACCAATGTTTGACCTCCAGAGGGCAGAGCCCTGGAAGGTGCTCCCTGGACAGAGGTTCTTCTCACCCTCAGCCTGGCCTGGCCCTTCCTTGTCTGACCTCTGGGTGCCTCCGCACACTCTGCCCACCACAGACTTTTGTCTCTGCTTAGGTTCCCTCTATGCCTGTCTGCCTCTCCACTTCTCTCACTGCCAGGTACCCTGTATTGCCCTCCTCAAACATCCTTACTCATTCCCTACACTAGGACACAAAATACAGGCTTATTTTCTATCTCTAGCTCCCATTTCTGTGGCTTCCTTCTGTCCCTCCCTCCAGAGAAGGCCTTAGATTTCAACATTCGTGGTTCTCAGAGGGCAGATGGCTGCTCCTAGGCCCTGTGCCCCCATTATGTTGCTTCTGGCACTGTAAGAATCCACCCCCAGGAGGTCCTATCCTCTATCTGGTGGTGGTGGTGGTACAGTTTTGGGGCAGGCCTCTCCTGTCCTTTCTTTGGTTTACTTTTTCTGATGAGCCACTCACATCAACCAGAAGCTGAGTCTCAGAGATACCCTGAAGATTTATGCCAGGAAATCCTTCACCCTTCTCCCTGCTGACTTTTACCTCTAAGCAGAAAGGTTGGGTTGTCTGTCTGGTTGTCACCTCCTCTCCTCTCCACCCATAGGAGCACAACTCACCTCGTGTGGATGACTTTGTGTACATCTGTGATGATAATTATCAGCGATCTGAGGTACTCAGCATGGAAATCAACATCCTGAACGACCTCAAATGTGACATTAACATTCCCATCGCCTACCATTTTCTGCGCAGATATGCTAGGGTAAGAGAGAAGAGACACATCTTCATTCTCCCACTGCTGAGTTAGTCTCCTTTATACCCAGAGTAGCTGCCTTGAGTGGTAGGAAAGGGGAAAGGGACAACAGGCAGCAGGGAGCTTTCTCCTTCCATCCAATCTCCTAGGTTAAAGCTTGGCAATCTTTATGAAATAGTGGGAGGTGGGTGGGGGTGAGTTGCAGATTTCCACAGTGTGCCTATAAGGTTTTGAAGTGAGGCCAGAGTTGGGGAGGAGAAACGTTTCTTTTATCAGGGAGAGACACATGGAAAACTTTGTGGGGGGATGCTGGCAATATTCTCATTCTTTGCCTGAGTATTGGTTACAAGGGAGGTCACTTTATAATTCATTGTATTGTGCAAATGAGTGCGATGTACTTTTCTCTTTGTGTGTGTGATAGGTTGTAATTTTTAAAAAATAAGTTTAAATAAGAAAAGGGAAAAGGTTGTTTTGAGGTATGGAACACCTTCTAGGGAGGACCAGGAACAGAGTCACGGTGGGAGGACTTTGGCTCTTTAAAGAATGACCCATATAGCAAGGGGGGATGTGGGCCAGTACCATACACACAGTTGGTAATTTGATTAAAATCCTAAAGGTGGCAAATCCCACTGACTGTTTCAGAATCCCCCCTAAAGAGTCTGTTTTTGTGGGTAGGGAAGATGAAGTGAGTTACGGTTGCAGGAGAAAGGCACATTACTCAAACAGAGGGCCACTGAGGCTCGGGATGATGTAACTGGAGAGGGAGTCCTCTGCTTGGTGCCAGTTTTCTAAATTGATTTCTGAGCCAGTCTTCTCATTGCCTTTAGTGTATCCACACCAACATGAAGACACTGACCTTGTCCCGCTACATCTGCGAGATGACCCTGCAGGAATACCACTATGTCCAGGAGAAGGCTTCCAAGCTAGCTGCTGCCTCCTTACTCCTGGCCCTCTACATGAAGAAGCTCGGATACTGGGTAAACACTTGCGAGATAGGGGTATAGGGGTAGAGATTTAAAAAGCAGAAGGTCAGCTCATGGGGAAGGTGTAAATTAAGGCCACGGGAAACTCTTGGGGACAAAACTGACACATATTCACCACTGTGAACTCTAACACCTGGACAACTTGGGGCAAGGGCTTCTACAGCAATGGTTTTGAATTATGCCATTTTTCATAATCAAAGTACCCTTTGTTCCAAAGAAAGCTCACCTGAAAGCCCAATATTACATACCAGACTACTGTGAAGGTATTCTGGTTGTCATATGGGGTAGTGTGACCCTACTTCTTATCCCCAGCCCTGTTCCCCTCTTGCCTCTTGCAATCCCCTCAGCAAGACTGGCCCCTGAGGCAGCTTGTTGGAACAGGGTTTGAAAAGCACTGAGCCAGAGAAGAGTAGTGAAAGCAACTGTCTGTGTCTACAAAAGTGGCACTCAGGGGCATGACTATAGTGTTCTTCTCTGAAGAAGGCTCTCAAAGCCTCCTGCTCCAATACAAATAAAACTCATATTTGATGCTTTCTCAATTTTATGAAAAGTTGGGGGTAAAATCAACTTTAGATAATTTCGCATTCTTACTAATGATATGTATAATATATAATCCAAGTAGCAGGAGTATGCTTGCAAATGCAGCCCCTCTGCTCAACCACTTCTGAGCTCCTCCTACCTAAAAATCCTGGAGCCACTGAGGGAAGAACCTCTGTGGGCTGAGAAAGAACCACATAAAGTAGTTATGTGAACTTGGAGAAGCCATACTGAAATTTCTTGAAACAGAGAAAGCATTCAATAAATGATAGTGATGATGAAAAAGAATAAATAATAATCATGACTGGCATTTATTGAGTGTTTAGACAGTGATCTAAGCACTTTGTGTATTAACTCATTTAATCTCCACAACAACCCCACATGATAGTACCGTTATCCCTGTTTTGCAGATAAGAAATAACTCCCATGTTTACACAGCTGATGAGAGGTGGAGCTAGGCTTTGGAAACTAGGAGTGG
Task1_train_29924
Gene BMP15 (bone morphogenetic protein 15) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Ovarian dysgenesis 2
TTCCTTTATAGCCAGGGTGGAGCAGGTTTAAGGGTGGGCCTCTAAGAAAGATTACTGTAAGATGGGAGTGTGGAATAACTTGAGAAAGCAAATACAAGCCTGGCTTGGATTTGTGTGAATAATGTCTAGTGCGCCAAGCCCAAGGGTATATTAAGCATGAGTTGGAATTTGACCTTTTATTTTACTTATTTTTTTGAGATGGAGTTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAA
TTCCTTTATAGCCAGGGTGGAGCAGGTTTAAGGGTGGGCCTCTAAGAAAGATTACTGTAAGATGGGAGTGTGGAATAACTTGAGAAAGCAAATACAAGCCTGGCTTGGATTTGTGTGAATAATGTCTAGTGCGCCAAGCCCAAGGGTATATTAAGCATGAGTTGGAATTTGACCTTTTATTTTACTTATTTTTTTGAGATGGAGTTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCACCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAA
Task1_train_29925
This variant affects gene BMP15 (bone morphogenetic protein 15) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; Ovarian dysgenesis 2
TTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAA
TTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCATTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAA
Task1_train_29926
A sequence alteration has been identified in BMP15 (bone morphogenetic protein 15) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Ovarian dysgenesis 2
GCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTAC
GCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCCGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTAC
Task1_train_29927
This is a variant in BMP15 (bone morphogenetic protein 15), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Ovarian dysgenesis 2
CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGC
CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTGTTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGC
Task1_train_29928
Given this context: Chromosome X, gene BMP15 (bone morphogenetic protein 15) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Ovarian dysgenesis 2
ATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGCAAGTGTATAAATGCAAATTTTAT
ATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCGTTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGCAAGTGTATAAATGCAAATTTTAT
Task1_train_29929
Given this variant in gene GSPT2 (G1 to S phase transition 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Delayed speech and language development
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGGTAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGATAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
Task1_train_29930
This alteration in GSPT2 (G1 to S phase transition 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Autism
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGGTAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGATAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
Task1_train_29931
Assess the clinical impact of this variant on gene GSPT2 (G1 to S phase transition 2), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Seizure
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGGTAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTACAGGCTTATGGGGGCCCACTGGAAAGGGAAAATCAAAAGGCCTGTGGATTTCAAATTAATGAGTGATCTTAAGTTGCATTTCCTAAGTTCGGCTACAGACTCATATATTTCATGAGTCCCTCCCTACCCATTCCTTGCCTCTCCCTTCAGTTGCTGGGTTTCTGAATTTCTGTATAGTTAACCCTTATCTTGCCTCCCATTTGTTCAATAGAAATGATCACTTTTACTTGAATCTTTTGGTAGAATTGTATACCATGTGTTCCTGTCTAGGTTTAATCATCAGATTGTGGTCAAATTGCTCTGCCAGACTGTGTGAACAAAAAAGTGAATGGAAATTTTCGTTTTAAAAAATAATACTTTTGGACTTAGCCCGTGGCTAAGAAGAAGTAAGGAAGCCAAGCGTACGGATAGCAGCGAGGGGTCAATCCACGCCCGGCGTTGGGTCGGGGGTGGAGGAGTCGGAAGTGGTTGGGGTTTGGGGGAGGAGATCCGCTCACACACAAGAGGAGAGTGTTGAGCCGCCATATCTGCTGCTGCCGCCGCAGTTGCGAATGCAGCATCGGCGCTTAGCTGCCTCCGCGGTGCAGCTAAGGTTCGTGTCGCTACCCCTTGGCCCTTCGCTCTTGCTGCCTTAACCCCGCCGGCGGAGCCCGCTCTTCTGGCCTGTTGAGCCCGCTCCCTCACTGCCACACAGCAAGTTCCGAGACCATGGATTCGGGCAGCAGCAGCAGCGACTCGGCGCCCGATTGCTGGGACCAGGTGGACATGGAATCCCCGGGGTCGGCCCCGAGCGGGGATGGAGTCTCCTCTGCGGTGGCCGAGGCCCAGCGCGAGCCCCTCAGCTCGGCTTTCAGCCGTAAGCTCAACGTCAACGCCAAGCCCTTCGTGCCTAACGTACACGCCGCGGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGACTCAGCCGCCCACCCTCCCGGCCGGCTCCGGCAGCAACGATGAAACCTGCACCGGCGCGGGATACCCTCAAGGTAAAAGGATGGGACGGGGGGCACCTGTGGAACCTTCCCGAGAGGAACCGTTAGTGTCGCTTGAAGGTTCCAATTCAGCCGTTACCATGGAACTTTCAGAACCTGTTGTAGAAAATGGAGAGGTGGAAATGGCCCTAGAAGAATCATGGGAGCACAGTAAAGAAGTAAGTGAAGCCGAGCCTGGGGGTGGTTCCTCGGGAGATTCAGGGCCCCCAGAAGAAAGTGGCCAGGAAATGATGGAGGAAAAAGAGGAAATAAGAAAATCCAAATCTGTGATCGTACCCTCAGGTGCACCTAAGAAAGAACACGTAAATGTAGTATTCATTGGCCATGTAGACGCTGGCAAGTCAACCATCGGAGGACAGATAATGTTTTTGACTGGAATGGTTGACAAAAGAACACTGGAGAAATATGAAAGAGAAGCTAAGGAAAAAAACAGAGAAACCTGGTATTTGTCCTGGGCCTTAGATACAAATCAGGAGGAACGAGACAAGGGTAAAACAGTCGAAGTGGGTCGTGCCTATTTTGAAACAGAAAGGAAACATTTCACAATTTTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCTTCTCAAGCTGATTTGGCTGTGCTGGTCATCTCTGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGTGGACAGACAAGAGAACATGCGATGTTGGCAAAAACGGCAGGGATAAAACATTTAATAGTGCTTATTAATAAGATGGATGATCCCACAGTAAATTGGAGCATCGAGAGATATGAAGAATGTAAAGAAAAACTGGTGCCCTTTTTGAAAAAAGTAGGCTTCAGTCCAAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTGACCGGAGCAAATATTAAAGAGCAGTCAGATTTCTGCCCTTGGTACACTGGATTACCATTTATTCCGTATTTGGATAACTTGCCAAACTTCAACAGATCAATTGATGGACCAATAAGACTGCCAATTGTGGATAAGTACAAAGATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCCGGGTCCATTTTTAAAGGCCAGCAGCTCGTGATGATGCCAAACAAGCACAATGTAGAAGTTCTTGGAATACTTTCTGATGATACTGAAACTGATTTTGTAGCCCCAGGTGAAAACCTCAAAATCAGACTGAAGGGAATTGAAGAAGAAGAGATTCTTCCAGGATTCATACTTTGTGATCCTAGTAACCTCTGCCATTCTGGACGCACGTTTGATGTTCAGATAGTGATTATTGAGCACAAATCCATCATCTGCCCAGGTTATAATGCGGTGCTGCACATTCATACTTGTATTGAGGAAGTTGAGATAACAGCGTTAATCTCCTTGGTAGACAAAAAATCAGGAGAAAAAAGTAAGACACGACCCCGCTTCGTGAAACAAGATCAAGTATGCATTGCTCGTTTAAGGACAGCAGGAACCATCTGCCTCGAGACGTTCAAAGATTTTCCTCAGATGGGTCGTTTTACTTTAAGAGATGAGGGTAAGACCATTGCAATTGGAAAAGTTCTGAAATTGGTCCCAGAGAAGGACTAAGCAATTTTCTTGATGCCTCTGCAAGATACTGTGAGGAGAATTGACAGCAAAAGTTCACCACCTACTCTTATTTACTGCCCATTGATTGACTTTTCTTCATATTTTGCAAAGAGAAATTTCACAGCAAAAATTCATGTTTTGTCAGCTTTCTCATGTTGAGATCTGTTATGTCACTGATGAATTTACCCTCAAGTTTCCTTCCTCTGTACCACTCTGCTTCCTTGGACAATATCAGTAATAGCTTTGTAAGTGATGTGGACGTAATTGCCTACAGTAATGAAAAATTAATGTACTTTAATTTTTCATTTTCTTTTAGGATATTTAGACCACCCTTGTTCCACGCAAACCAGAGTGTGTCAGTGTTTGTGTGTGTGTTAAAATGATAACTAACATGTGAATAAAATACTCCATTTGAAACTCTTCGGTTATTTGAAATGCTTTTGAATAATGTTTAAATGTCATTATGTAATGCTATTCAATTAGCTTTATTACTTTCTCAAATAGTTGAATATGTTCTATCACTTAAAAACTTAAAAACTCTTCACCACTTACTGTTTTAAGTGAGGAATTTACAAACAATGCATAAGTGTGTATTAAAGGAATAATTTTAATTTTGAGAAAAAAACGTATGTTAAGGCTCTTCCCAGTGGGCTTTGTTTTCTCTGTCCAAGTCCAGTCAATAAAGGAGCTCTTCTGCTTCCCCACTTGTGATTTGAAAATGAAAGGCTCAGGCCGTCTTTATTTGTATAGCAGTAGTTCATGTAACATTATCCATAGGTTCTTGAAGACTACAACATTAAGCAAAACAATGTACAGCAGGTGTACATCGTACAACAATGCACAATGTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACATTGTTCAATGTTGTTATGACCTTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGTTCAATGTTGTTTAGTTATGACATTGATAAGGGGAAAAATTCATTTTGTTAGATGTTATTTCACTTGAAGTCACAATTTCCAAGAACCAGTGGACTATGTTAAGTGAGGACTTACTGTATTCCATCAGGTCCCATCACGTTAAGCATGGCCAAATTATAGGAGATTTGGACCATAGGTTTACAAGACTCTTTATTTTTTTAAAAGACAGG
Task1_train_29932
This gene mutation involves KDM5C (lysine demethylase 5C) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Smith-Magenis Syndrome-like
AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGT
AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCCTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGT
Task1_train_29933
Mutation context: Chromosome X, Gene KDM5C (lysine demethylase 5C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Spastic paraplegia
AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGT
AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCCTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGT
Task1_train_29934
This is a variant in KDM5C (lysine demethylase 5C), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
ACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATC
ACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCAAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATC
Task1_train_29935
Here is a genetic alteration in KDM5C (lysine demethylase 5C) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
AGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATCAATTAAAGCAGGACCACCTTCAGCTTGGTAATATTATTGCCCTAGCTGGAGTTAATAAACCATCTGCATGTAATAAAATGGCAATTCCTGAGAAACATTCCAAATTTCAATCAGTTTCTTCATGTATTAACATTACCAATAATAGCAGCTGCAACATTGCAAAGGCAATGTTAGAGAGATGGCTTTCATATAA
AGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAAGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATCAATTAAAGCAGGACCACCTTCAGCTTGGTAATATTATTGCCCTAGCTGGAGTTAATAAACCATCTGCATGTAATAAAATGGCAATTCCTGAGAAACATTCCAAATTTCAATCAGTTTCTTCATGTATTAACATTACCAATAATAGCAGCTGCAACATTGCAAAGGCAATGTTAGAGAGATGGCTTTCATATAA
Task1_train_29936
A genetic alteration is present in KDM5C (lysine demethylase 5C) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Intellectual disability
AGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATCAATTAAAGCAGGACCACCTTCAGCTTGGTAATATTATTGCCCTAGCTGGAGTTAATAAACCATCTGCATGTAATAAAATGGCAATTCCTGAGAAACATTCCAAATTTCAATCAGTTTCTTCATGTATTAACATTACCAATAATAGCAGCTGCAACATTGCAAAGGCAATGTTAGAGAGATGGCTTTCATATAAATCACCTTACTCTAACCTTACATCTTGCAAGTTAGGTAT
AGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGGTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAATCCCACTCTGCCACTTATATGCTGTGTGATCATGAGTAAATCATTTAACGTCTCTGGGTCTGTTTCATTATCTAGTAAGATGGAGATAAACAGTATCATCCTTGTTGGGTTGTTATGAGGATTAACAAAAATAAAGCAGCTATGGAATCAGACAAGTATCTCAGCACTTAGATTCAGTGTTCATCAAATATTTACTGTTATTAGCTCTAATTTTCAGATAAGAATATATATTCCACAGGCCTATCTCATTTTACTAAGGCAGAAACTAAGTCTCAGGGTCAGTAACTTGCCAAACTGAGTTAATTTTGACTCTAAAGCCAGAGAATATTCTAAGGATGAAGTCTCTAGGGTTTTTTTGGACTACAGACTCCTGAGAATTGGATGTAAACTATAAGTCCTCTTCCCAGAAACATACTTAAATACACATACAATCTCTTACAGGATTCCAAGACTATGGTGTCCAGAATGCTTCTCTGAGGTAAGGGCCAAGTGTGAAGAATTCTGAATGTCAAGATGAGAAGGTCTATTCTCCCCACCTTGCTTTGGCTCCTTCCCACAGCTTGGCACAGCCACACGGCCATCATTTAATAACAGTACTGAACAGAGTGAGAAAATGATGCCTGGAAAAGCCCAGGGACTCAACAACTTACACCACGACTGAGAGGCCCCAGACTTCCAACACTACTGTAGCTATAGTTCTCCCTATAGCCCACACTCACAGGAAAGCTATAAATGAGCTTTAAAATAAGAAAGTATTACCCTAGATAGGCAGCAAGGGATCCCACAGAACCAGCACTCCTTTGTAATCTTATGAAAGACTCTCACAAAGTCAATTCCCTAACTGGGCAAGTGTGAAATTTGAAGATGATGGCTGAAACTACACGAGTGGACTTTAGAGCTCTGTAGCAGCTTCCACTCAGCTACACACACAACTGACACAAGCTTACAAGAAATCAATTAAAGCAGGACCACCTTCAGCTTGGTAATATTATTGCCCTAGCTGGAGTTAATAAACCATCTGCATGTAATAAAATGGCAATTCCTGAGAAACATTCCAAATTTCAATCAGTTTCTTCATGTATTAACATTACCAATAATAGCAGCTGCAACATTGCAAAGGCAATGTTAGAGAGATGGCTTTCATATAAATCACCTTACTCTAACCTTACATCTTGCAAGTTAGGTAT
Task1_train_29937
This is a variant in KDM5C (lysine demethylase 5C), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
TAATTCTGTATTTTTATTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCT
TAATTCTGTATTTTTATTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATAAGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCT
Task1_train_29938
A genomic change on Chromosome X affects KDM5C (lysine demethylase 5C). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGT
CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCATGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGT
Task1_train_29939
Consider a variant on Chromosome X in gene KDM5C (lysine demethylase 5C). Determine its clinical classification and disease relevance.
Pathogenic; Spastic paraplegia
TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTG
TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCAGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTG
Task1_train_29940
A variant affecting Chromosome X, within the gene KDM5C (lysine demethylase 5C), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTG
TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGAGAATCCTCTTTTACAGTTTTCCATGGCATTATAGACAAGGACTGATGCTGTGCTATGGGTCAGGAAGAGAGAAGTCTAAGGAAAGTCAGACCCCATGTCTACTTGTAAAGCAGCAGAACTCAAGCCCTTGATCATCATCCTTAAATGGGGTGAGGTAGAGAGAGAAAAGGATAACTCCCTGAGTGGAGGAAGATTGCCTGAACTGTTATAGGACACCTCCTTCTGTCCAATTCCCTAGATATCCCAAGTCCTTGGTTAAATATCACTAAATTTTATAATAAAAAAATATTACTCATGGGGCATATAGTATACCAAAACAAGGAGAAGGCAAAAAGAAATGCAGGTGAGAACCACTGACCTAGTCCAAAGCCCTACTGTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCAGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTG
Task1_train_29941
Given this context: Chromosome X, gene KDM5C (lysine demethylase 5C) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
GTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCGCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTA
GTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAAGAAGTACACAGAGGATAGACCAGAACTCTGGGTTCAACTTTTGACCTGTTAAATAAAAAGACCTATCCACTGCTCTGAGAAGGGTAAGAGTATACAAAGTATGGCAGAGGCTGCTAGTTGTACCTCGATATTCATTCTTGTCTTCTGTCATAACAACATGACCTCCAGTTTTAAGTGGTACTTGACCATCCAAAATAAGAATTACATTTCCCAGTTTTCCCTGCAGCTAGATGTGGTCATATGACCAAGTTTTTACTAACAGAAGGTGAATGGAAATGATGTGTGCCTTTAAAAGATTTGTCTAGCCCTGCACTTCCCCACTTCCCTCTTCCACTGGCTGGAATGTAGATGTGATAATAAGCCACCCCTTAGCTGTTACCGTCAAACACATGGCCCAGAGGGCATACCATCATACGGTGCATCTAATCACTATTATTTTGGGTCTCTACTAGACTAGTCAAACCCGTAGCCCAATTAAGAACAGCAATGAAGAAAGGCCAGGGGCAGAATACAGATGACAACCACCGCCACCACCACCATCACAAAGGACATCACTAAATCACTCCTGCCGCTTGTCCCTGTTGCCTGGGTACTCACTGGCACACCATGGGACATGAGGGTGTTGGGATTCATGAGGGTGACAAGTTGGTGCAGGAGGTCAGGCTGGCTATCAAATAGTTCAGGTGTCAGCTTCTTCATCACTTCTTCCAAATGTTCTGCTGCAAGTGAGGGCACCCCATACCAGGTCTTCGGCTCACCCCTGCACAAGTGGAAAAGGGACACACACAGTAAATCACACCTTGGTCATGCAGGGAGCCCACACTGACTTGATTCCCTGGCTCCCCAGGGTCCCACTCACCAGTGGAGGTAGTTAATGGAGTAACTCCAGTGATCCTCAATATGCCAGCAAAAGGCTGAGAAGACCATGCCCACGTAGAGCCAGGGCACCTTCATGCCAGAGATATCTGCATTGATGTGGCACAGTACAGACTGTTCCAACACCGGCATCACATTTAGGTTCCAACCACTGGTAGCATACTCCTGCCAGGTCAGGTATTTGTAAAAAGGGCATGAGGGTTATGCTAAGGAACTGAGATCTTAAGTCATTTTCTTTAGCCTAGGGAACCTTAATTTTGAGGTCAGAGACTTTTTTGAAACATCTTAAGAAACATATAGGTTTTCTCCCTACCTCTCCACCAAAAAGCATACACACAAAATTTCAATTGTATTCACTTCAATTTCTACGAAGTTTACCGATATATCCACCTACCAAAATACCTGCAAGTTAAAAAAATCCTGCTCTGGATCAAAATGTACCCTTTCTTGGAAGCACAACTAGGCCCTCATTTTCTCCTGTGCATACAAACCCCACTCCCTGAACACTACTTATGGATGAGCCAGGATCTCATATACCTTCTCATTTAATTTTTATAACAAATTTGCAAAGTAGATATTATCCCCATTTTAAAGATAAGGAAATGGGCTCACAGAGGCGAAAGAACCCATCTCATGTTTGTACATGCCAGGTACCAGACTGTTTTCTTTCATCTCATCTAAATCTCATGGCTACATAAGACAGGCATAATTATCCTCATCTTACAGAGATACTGAGTTTTTCAGATACTAAATGATTTGCCTAAGCTCACACAGCTGACACGTAACCATGAATCATCCACTCACCTCCTCTTCGGGGGTTAGGTGCCGTTTACTGTCACTGACAGGGAAACCCCTGCCAAATTCTTTGGAATGGATGTCAGCTCCATACTCAACAGTCACATCTTCCTCAATGCTATTTACCAGCCTCCAGAACTCCTTCTCCACAAGTTCTGTGGGCACCATCTGGGGGAAGACAGGTAGCAGATGACTATGGCCCATCACACCCTGGACCCACTGATCCAGGTGAGCTGAGACCATCTGGCATCAATACCTATGATCCTAGCCCAACACTACCTCAGCCCTCCATCACCTACATGCACGGGCATGTTGAAGTAGTCAGCTTTAAAGGAGTCGGCCATCTCGCCAAAGCTCTGCAGAGTGTATTCCCGGGTAGCCTGCTCAAAGCCAAAGGCTTCTGGGGGCCGCTTACACTCCTGAAACCCAAAGGAGAACATGTCACCAAAACAGAGGCAAAGAGGTGAAGAATCCTCCCAAGTGGAACTGGAATATAAGGGGTAGGGAGGGAGAAGAGCCCTAGGTCTGCACTCAAGGCCCCTGAGGCAGGCCTTACTTTACAGCTGTACCTTTTGCTCTTACCACTTCGGCTTAGTCTTTTCATTCCCCATCATGCTTTTGCTCAGTTCCTCCCTACTGAAATGTCCTTTTCCACTTTCTTTCATTGGTTCCTCAAAACTCAATTCCAGTCTCACAACTTCCAGGGAGTCATCTCATGCTCTTTTCTTCCTTTAGGACTTTATCTAAATGGCTCTGACTTTAATATGCTATCCTGTGTTCTTCTGCCACCATTTTTCCTCTCTAGCTAAAATGTGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGGTCACAATCTCAACTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCGCCTTGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTAAAATGTGGTTCTATGCAGGGTGCTTAGAGAAGGTTTTTTATGCCCAGACTAGAACTGTAAGGCTGGGAAAATGGCATTGAATATTCCAGTACCTTGAAAGATGGAAAACAGGGCCGGGCATGGTGGCTCATGCCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTA
Task1_train_29942
A variant was discovered on Chromosome X, affecting KDM5C (lysine demethylase 5C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
GAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTAGGCATGCTCTCCTGCTATACCTCTGTTCCTGCTAGTCCTCCACCTCCCAGTCCTGAACAGCCAACCACCTCTCTAGTTAAAGCCTGTAGCACTGCCTCAATCTAAATATAACAAGAGGAAAACAACTAAATAAATATTATACCCATGATACACCATCTAAAAAAATTCCAGACCTTAATTAAACTTAGTAATATAGAGAAATGGTTATAAAGCAACAAATGAAAATATATAACAAGATCTCAAACTTGTTAAAGATAGTTACATATAAGTAACAGCAAAAAGATGAGAAAAAAATATATCAAACTATTAACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCCTCGAGAACACATCCGGCAGACATATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGA
GAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTAGGCATGCTCTCCTGCTATACCTCTGTTCCTGCTAGTCCTCCACCTCCCAGTCCTGAACAGCCAACCACCTCTCTAGTTAAAGCCTGTAGCACTGCCTCAATCTAAATATAACAAGAGGAAAACAACTAAATAAATATTATACCCATGATACACCATCTAAAAAAATTCCAGACCTTAATTAAACTTAGTAATATAGAGAAATGGTTATAAAGCAACAAATGAAAATATATAACAAGATCTCAAACTTGTTAAAGATAGTTACATATAAGTAACAGCAAAAAGATGAGAAAAAAATATATCAAACTATTAACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCGTCGAGAACACATCCGGCAGACATATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGA
Task1_train_29943
A change on Chromosome X affects gene KDM5C (lysine demethylase 5C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
TGCACCACTGCACCCAGCCACCTCTCTCTCATTTGTCACCTTCCAGTCAATCAGAGAAGCCCAAGGTCCCAATAGAGAGGGTCACAACTGCCAAAAGCTTTAGATATGTCCTCTAATCTCCCTGACAAGGTCATGTGAGTATTATCATCTCCTATACAGATGAGGAAACAGAGGCTCAGAGGAGTTAGGACACACAGCAAGCATCAAGATATTTTGGTGCCAAATAATTTGAGCTTTGGCTCTCCCTCTGCTACTGATTTGCTATGCTGCCTTGAGCAAATCAGTTCCACTGTGGACTCCTTTTTCCTTTTACTAATAATTATAAAAGGAAAATAACTGCACAGTCCACTTACCCCAGAGGGGTAGACTTAATGAGGGGACCAGTGAAGATCCTCTGCAGATTTCAGAATTATATCTAAGCTCTAGGCATGTTTCAGAGAAAGCAAGCTCCAAAAAGGCACATGCACCTCCTTATGTACCACCAAACTTGTTCCATGGTGGCTAAAGGGTGAAAGTGCATGCTATAACTATAGACAGAATGGCCTAGAACTAAGAGATGGTATATCAGAGTAGCACTAGCACCTGGCCAACCCAGGACCCAATGTGGGCCAAGGAGACTAGAAACAAGATATGTATGATGCTTCCCTGAAATCTCAGTAACCAAGAAGGACTCCCATAGGCCCCAAGTCTACAACCTCCTCACTCCAGTCAGAGAGCCTGGTTCTTGGAAGAACTAGATAGTCATTACCATTCACTACCTTGCCCTGATCCCATTAGGGGGAACAAAGACAGCTCTTTCCATTTCATAGTTGAGAAAAACTAAGGTCTATTTGTAGAAAGAAACAACCTACAGTTCCTTGGCTGTGAGAACTCTCAAAGGGCAAGGAAGTGCTCCTTCAACCTCAGCCCCTTAGCTTTCTGAAGTTGGCCTCATCCCTGCTCCTTCTTATTAGTCAGCACTCCCTCTACAGAAAACCTGCCCTTGTGTCATGCTAGGCAACATCTTGCCCAAGCTGTACCCCTATAAACCTGACAAGATATATTTTTCTTTTCTGAGATGGGGTCTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCCACCTTAGCTTCCCAAAATGTTAATAGTGCCGAGGCTGAGGAACTCTGGTCTAGAACACAAGTGAACTTTTAGGGTATAAGTATTCAGCTGGGCCTGGGCCTAATGCCCCACCCCTTGGACATCTATTAAGATTTGTGGGTACATAATAATGGGGGAGGGAGTGGCAACATATGCCTAACCTAGAGCTGCCATGGAAAACTCCAGGATCTTACGTGGAACTGGCTTTAGGGAACCTAATCTCACTACCCCAGGGCATTCTCAAGCAGGAAAAACCCCACCTGTCCATGAAAAGGGCCTGGACTTCCTGTACAGAACAAAAGGGAGAAGGAAAATCCTACCTGCCTGACCCCTGGCCAAGTCTCTAACCATTCCAGCCTCCACAGAGCCCAGTTCTTGTGTTGTTCTGCCCATCTACCCAAACTCCCACCTTACCAAGCACCCATGGAAGCAAAGTAGAAAGCACAGGGCTGTGGATGAATTGGATATATGAAGCCACATTCAGCTGGCCAAGGAAGAAGGGGTATCAGCCAGTTCCATAATTCCTTTTTGTTGACTCAGCTAGGGTAGGCTAGTTTACAGGGGAGTTTCAGAAGTAGCAAACCTTTGTGAGAAAGGGATATATGTCCCCAGCCTTTGGGCTATCAAATCACAAATGCTAAATGCCCCTGGCTCTTGGTTATATTTAGAGCTCTAAAGCTTCTTCCACGCCCTGGGCACACTAAAGTAATGCAATTTCACAGAAGAGAGAATAAAGGCCTAGCTAGGTAAAGTACCTCAGCCAGAGAAACTATAAGGGAAGTGGGATTAGAACTCAGGTATACATTCTCCCAACCCCACCACCAGCTCCTAGTCTTCTCACCTCTAGCTCATTCAGCCTCTGGATTCGGGGGGTAAACCTGAAGTTGTCCACTTCCACAGCAAAGGGTGGCTGCCAGTCCTGAGAGGGTAGAGAGGGGAAAGGGACTTGAGTTATCTCAGCATAGTGTAAGACCGGAAGTCACCAAAAGCAGCTCGGAATCCCACTGGCACCTTCCCAAACCTCTAGCCACTCCAGACCCTTTAACCTGCAAACATCCTACCCAACCACCCACCCCCACCTCCCCCCAGAACTCACAAGAGTCTAGCAGCCCCTCAAGTCTGCACCCAAGGCCCCATGCACATGCCCTAGGAAACTTCTCCTGAGTCCCACCCAACAGTACAGTGCCAGGATTTCAAGAAATTAAGAGATGGAGCCTCTGTTTTGTTGACCCTAAACCTTCTCCACACCCACATTAATTCCTTATCCCCTAGGCACGTGCTGTAGGACACACAGGCCTGGGAGTACTGGAAAGCACACAGGATCTAGAGTCAGAAGATATGGGTTCATGTTCTAGATCCGCTACTTACTAGCTATGAGATTTTAGCTTTCTGAACCTGTTTTCTCATCTGTGAGGTGGGAATATGAACTCTAGCCCTGGCTTCCTTGCCAGACCAATATGGAAAATTAAAACTAGTTTTCAAATGAAAATGTTATTCAAAGGAGTCACCGTTATGACCTGACATCTAAGGCTGACCACACCTCACAATACACATGCAGGGTAGCTCAGGTCCGATTGTGGCAGGACGTAAAGGTTTGGGCCTTTAATGTTTGTTCTCTCAGTTTAAAGGGCCTGAGATAGACACTGCAGGGAAGAGCAAGGAACAGGGAGCAAGTATGTGTATCACTCACCCAGTCTGGAAGGCTTCCTGTAGATCCTCTCTCATACACCTGCCTGGTACAGGAAGAGGCAGGGGAGGAAGCCCCAGGGGGTGGGGGTAAGTGCTGGGATGCCTGACTGTGGTGGCAAAGAATGGGAGGATTTGGGGAGGGAAGTCAGGGAAAGATCATGAAAGTGGGAGACACTCTGCTCTGCCAAGTTGGAGCTTGCTGTGTCCTGCCCAAAGGTCAGCTGTGAAGAACCCCCTCTCCAACACCCCTTTCCAACCTCCTATGCAGACCTCTCCTTCCCAGAGCCCTGGCTCCTGCTGGGGTGGTGAAATCAACCTAAAGTAACCTAAACCAATGTTCTCATTTTATAAATGGGGAAAGTGAGGCTCAGAGAAAAAAAGTGAAATTTCCAAAATTACATGCTGAGTTAGTGGTGGGGCCAAGAACCCACGTCTTCTGACCTCTGATCCAAGGCCTTTGCACTACACCAGACATCAATGTTCATACATACATGCATACACGTGGGCGGGGGGGAGAGACAGTGAAAGAGAAGAAAAACTGTTGACCTCTTCTGCACACACACTTTTAGAAAATGGGCTAGAGGACTCATATTTTGCATGCATACACAGACCACACTCCCCTGCCCCTACCAGCCAAAGCAGGTGGCAAACATCTGGGGCTCAGTAAGCAGGGACAAAAAAAAAAAAAAACAGGCAGGCCAAAATGGTATGGCTCAAATCCAGACAAGCTCCCCATGCCCTCTTGCCTCTCATCAGGATAGGGCACTCCCCTCAGCACAGGTAACCCAGCTAAAAAGGTGCTCAAACCCAAAACTCCGGGCACCCTTCTTTCCTGCTGAATCAAGTTCTAGACAATCAGTGCAACATCAAGCACCTGACAGGAAATGGCAGCCCTGGAATGCTACGGCAGGAGCCATGGATGCAACAGATACCTGGGAAGGCCCTGCAAACCGCCTGCCTTCATCTCCAGACTACTGTATGCCAAATGTATGTTGGTATTACTGGGATGTGGTGATAAAAAAAAGGCTGGCTACCTGATGAAGAAAGCAAGATCCTTCCAAACTCCACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTG
TGCACCACTGCACCCAGCCACCTCTCTCTCATTTGTCACCTTCCAGTCAATCAGAGAAGCCCAAGGTCCCAATAGAGAGGGTCACAACTGCCAAAAGCTTTAGATATGTCCTCTAATCTCCCTGACAAGGTCATGTGAGTATTATCATCTCCTATACAGATGAGGAAACAGAGGCTCAGAGGAGTTAGGACACACAGCAAGCATCAAGATATTTTGGTGCCAAATAATTTGAGCTTTGGCTCTCCCTCTGCTACTGATTTGCTATGCTGCCTTGAGCAAATCAGTTCCACTGTGGACTCCTTTTTCCTTTTACTAATAATTATAAAAGGAAAATAACTGCACAGTCCACTTACCCCAGAGGGGTAGACTTAATGAGGGGACCAGTGAAGATCCTCTGCAGATTTCAGAATTATATCTAAGCTCTAGGCATGTTTCAGAGAAAGCAAGCTCCAAAAAGGCACATGCACCTCCTTATGTACCACCAAACTTGTTCCATGGTGGCTAAAGGGTGAAAGTGCATGCTATAACTATAGACAGAATGGCCTAGAACTAAGAGATGGTATATCAGAGTAGCACTAGCACCTGGCCAACCCAGGACCCAATGTGGGCCAAGGAGACTAGAAACAAGATATGTATGATGCTTCCCTGAAATCTCAGTAACCAAGAAGGACTCCCATAGGCCCCAAGTCTACAACCTCCTCACTCCAGTCAGAGAGCCTGGTTCTTGGAAGAACTAGATAGTCATTACCATTCACTACCTTGCCCTGATCCCATTAGGGGGAACAAAGACAGCTCTTTCCATTTCATAGTTGAGAAAAACTAAGGTCTATTTGTAGAAAGAAACAACCTACAGTTCCTTGGCTGTGAGAACTCTCAAAGGGCAAGGAAGTGCTCCTTCAACCTCAGCCCCTTAGCTTTCTGAAGTTGGCCTCATCCCTGCTCCTTCTTATTAGTCAGCACTCCCTCTACAGAAAACCTGCCCTTGTGTCATGCTAGGCAACATCTTGCCCAAGCTGTACCCCTATAAACCTGACAAGATATATTTTTCTTTTCTGAGATGGGGTCTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCCACCTTAGCTTCCCAAAATGTTAATAGTGCCGAGGCTGAGGAACTCTGGTCTAGAACACAAGTGAACTTTTAGGGTATAAGTATTCAGCTGGGCCTGGGCCTAATGCCCCACCCCTTGGACATCTATTAAGATTTGTGGGTACATAATAATGGGGGAGGGAGTGGCAACATATGCCTAACCTAGAGCTGCCATGGAAAACTCCAGGATCTTACGTGGAACTGGCTTTAGGGAACCTAATCTCACTACCCCAGGGCATTCTCAAGCAGGAAAAACCCCACCTGTCCATGAAAAGGGCCTGGACTTCCTGTACAGAACAAAAGGGAGAAGGAAAATCCTACCTGCCTGACCCCTGGCCAAGTCTCTAACCATTCCAGCCTCCACAGAGCCCAGTTCTTGTGTTGTTCTGCCCATCTACCCAAACTCCCACCTTACCAAGCACCCATGGAAGCAAAGTAGAAAGCACAGGGCTGTGGATGAATTGGATATATGAAGCCACATTCAGCTGGCCAAGGAAGAAGGGGTATCAGCCAGTTCCATAATTCCTTTTTGTTGACTCAGCTAGGGTAGGCTAGTTTACAGGGGAGTTTCAGAAGTAGCAAACCTTTGTGAGAAAGGGATATATGTCCCCAGCCTTTGGGCTATCAAATCACAAATGCTAAATGCCCCTGGCTCTTGGTTATATTTAGAGCTCTAAAGCTTCTTCCACGCCCTGGGCACACTAAAGTAATGCAATTTCACAGAAGAGAGAATAAAGGCCTAGCTAGGTAAAGTACCTCAGCCAGAGAAACTATAAGGGAAGTGGGATTAGAACTCAGGTATACATTCTCCCAACCCCACCACCAGCTCCTAGTCTTCTCACCTCTAGCTCATTCAGCCTCTGGATTCGGGGGGTAAACCTGAAGTTGTCCACTTCCACAGCAAAGGGTGGCTGACAGTCCTGAGAGGGTAGAGAGGGGAAAGGGACTTGAGTTATCTCAGCATAGTGTAAGACCGGAAGTCACCAAAAGCAGCTCGGAATCCCACTGGCACCTTCCCAAACCTCTAGCCACTCCAGACCCTTTAACCTGCAAACATCCTACCCAACCACCCACCCCCACCTCCCCCCAGAACTCACAAGAGTCTAGCAGCCCCTCAAGTCTGCACCCAAGGCCCCATGCACATGCCCTAGGAAACTTCTCCTGAGTCCCACCCAACAGTACAGTGCCAGGATTTCAAGAAATTAAGAGATGGAGCCTCTGTTTTGTTGACCCTAAACCTTCTCCACACCCACATTAATTCCTTATCCCCTAGGCACGTGCTGTAGGACACACAGGCCTGGGAGTACTGGAAAGCACACAGGATCTAGAGTCAGAAGATATGGGTTCATGTTCTAGATCCGCTACTTACTAGCTATGAGATTTTAGCTTTCTGAACCTGTTTTCTCATCTGTGAGGTGGGAATATGAACTCTAGCCCTGGCTTCCTTGCCAGACCAATATGGAAAATTAAAACTAGTTTTCAAATGAAAATGTTATTCAAAGGAGTCACCGTTATGACCTGACATCTAAGGCTGACCACACCTCACAATACACATGCAGGGTAGCTCAGGTCCGATTGTGGCAGGACGTAAAGGTTTGGGCCTTTAATGTTTGTTCTCTCAGTTTAAAGGGCCTGAGATAGACACTGCAGGGAAGAGCAAGGAACAGGGAGCAAGTATGTGTATCACTCACCCAGTCTGGAAGGCTTCCTGTAGATCCTCTCTCATACACCTGCCTGGTACAGGAAGAGGCAGGGGAGGAAGCCCCAGGGGGTGGGGGTAAGTGCTGGGATGCCTGACTGTGGTGGCAAAGAATGGGAGGATTTGGGGAGGGAAGTCAGGGAAAGATCATGAAAGTGGGAGACACTCTGCTCTGCCAAGTTGGAGCTTGCTGTGTCCTGCCCAAAGGTCAGCTGTGAAGAACCCCCTCTCCAACACCCCTTTCCAACCTCCTATGCAGACCTCTCCTTCCCAGAGCCCTGGCTCCTGCTGGGGTGGTGAAATCAACCTAAAGTAACCTAAACCAATGTTCTCATTTTATAAATGGGGAAAGTGAGGCTCAGAGAAAAAAAGTGAAATTTCCAAAATTACATGCTGAGTTAGTGGTGGGGCCAAGAACCCACGTCTTCTGACCTCTGATCCAAGGCCTTTGCACTACACCAGACATCAATGTTCATACATACATGCATACACGTGGGCGGGGGGGAGAGACAGTGAAAGAGAAGAAAAACTGTTGACCTCTTCTGCACACACACTTTTAGAAAATGGGCTAGAGGACTCATATTTTGCATGCATACACAGACCACACTCCCCTGCCCCTACCAGCCAAAGCAGGTGGCAAACATCTGGGGCTCAGTAAGCAGGGACAAAAAAAAAAAAAAACAGGCAGGCCAAAATGGTATGGCTCAAATCCAGACAAGCTCCCCATGCCCTCTTGCCTCTCATCAGGATAGGGCACTCCCCTCAGCACAGGTAACCCAGCTAAAAAGGTGCTCAAACCCAAAACTCCGGGCACCCTTCTTTCCTGCTGAATCAAGTTCTAGACAATCAGTGCAACATCAAGCACCTGACAGGAAATGGCAGCCCTGGAATGCTACGGCAGGAGCCATGGATGCAACAGATACCTGGGAAGGCCCTGCAAACCGCCTGCCTTCATCTCCAGACTACTGTATGCCAAATGTATGTTGGTATTACTGGGATGTGGTGATAAAAAAAAGGCTGGCTACCTGATGAAGAAAGCAAGATCCTTCCAAACTCCACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTG
Task1_train_29944
A genomic change on Chromosome X affects KDM5C, LOC130068308 (lysine demethylase 5C| ATAC-STARR-seq lymphoblastoid active region 29656). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
ACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCCATGCACACCTGGGACATGTCACTCTTCCCCTTCCTGATGCCCCAAAGCAGGGTAACAACACCTACACAAGGCCAGCCTGCCTAAGTCAGTCCAAGATAGAAAAAAGGAATTCAGGCCTCAACTACCCCCTACGTCAGCTATGCCTCTTTTTCCCACAGGCTTGCCCAACCACTTCAGGGAGTGCCTCCTTGAGGCTGCCCAGGACTCCTGCCTCTCCCTTCCACTAGCCTTCCTGACCCTCTACCCACTGCCACTCCCTCACCATGGACAAGGATACCTCAGAAATCTGTGGCCAGACTCCAAGAAGGAAGAAATTCGCTTACCCAACACCTCCTAGAGGATCTATCTGAAACCATCCTAGATCTGTGGCTGAGCACCAGAAAGCACCAAGTTGGATAAGGAGGCCTGTGGTGCCCTCCTCAGGTGGGAATGAAGCTTCCTATTCCATTTCAGCCAGGAGACACCCACTCAAAAACACCCTTTTCCAGCAAAGCTCAATTTCTGCCCTTGGAATCCCAACTGATCACTGAACATTATCATCACTTTTCCACCATATCAGCAAGGCAGCAGCTTGCCCTAGCCCTTGGGAGACTTCTAGCCTGAAGCCAGGCCTAGGAGGAAAGCTATGGCCTTTGTTGCTGACCCCTGGCAATCATGTTCCAAAAGGGACAGAATTCCATGGCTCCATTCTGTTCTGCGGGCCCAAGAGTGCCCTATCCTCTGGGATCTCCTACATCCTGGACCAGAGGAGAGTAGAAATCTTCTGAGAAGGACTCACACCCCACCACCAAGCTGACCGGTCCAAACATCTCCATAGGAAGTCAAGTCTGCGGGATGATGTGCAGAAAAGGCCTTGACATTGCCTTCAACGAGGAAAAGAAGAGGACAATTCCCTGAACCCACCTCAAGGGAGACAGAGCAATCCCTGTGAGACTGATTTCCTGACTGGTCCAGCAGGCCAGGATATTATCATAGATGAATTGGCCTGGCAAGGTATGAGTAAATATGAGTCAACCTACATAGGAATAAACCAATGACCACATCAAACACCCTCACAGTCACAATAATTACCACTTATCTAGTGCGTACTACATACAGACGCTACCTAGTTTAATTCAATCCTCTAAATAACCATTTCTGGGATCCATTTCACGGGCTCAGAGAGATTACTTCTACTTTCCCAAGGTCACACAGCTGCTCAGCTTCAAAGTGGAGTTTTGAACTCAAGTCTGTCTCCCTTCAGGACTGCGATCTTTCTATTAATACTATACTATGCTGCCTGCCTTAAAGGAAGTGATGACAACAGATTGGAGAAACGTCTTATTTTTACAGCCTCGACCTAGGTGGCCCGGGCTAAGAGATGTGCGGGGTGCCTCTCTGTGAACTCCCTCCGGCCCACTAGGAATCCCTGTCTTAAACCCGGAGTGATTCTGAAGGGCCGGGGTGGGGGTGGATCTCTGACTCCAGGTCACCTGTGGGCCTCACACCACGAGAGGACCCCTGGCCCAACACCCTTTTTCCGATCCGCGCCGCAACCACAACGGTCCCAGCCACCCCCTCTCCCCACCTCGAGCTGCCCTCCGCCCCAGACTTCGCCGCTGGCTATCCTACTGCTTCATTCCGTCTCGCCGCCGGCGAAAACCGGCCCCGGGGCTTACCGCGGGTGGGCGGATCTTGCAAATGCCCGATTTCTCTGCGATGGGCCTGATTTTCGCGATGTAGCCAAGAGGGTCTCGGAACTCGGCCCAGCTAGGCTCGAACACCGGGCACTCCGGTGGCGGTAGGAAATCGTCGGACCCCGGCTCCATGGTGGGCCCGAGGTCTGGGCCAGGGATCGGGAGGCTTGGACCGCCCTTAAGGACTCATGGCGCCGCCGCTGTTTGAAGCCGAGGCAATGCTCGGAGGCTAGGCCCTAAGCGGGGCAGCCGCCGCCCGCCGAGGGCCTAAGGGGGCGTGTGGCCGTCGTGCTCTGAGAGTCTCAGGCTGACTCTACTGCTACCGCCTCTTCGTCCCGCTCCGTTTCTTCCAAACTGTGTGGTTGCCTCCCCACTACCGCAGCCTTCGCCACCACAGTTACCTCCCAAACGCCGCGGCCTTCAGCGCCGCCGCCGCCATCTTGGTTTGTCAGCGTCTCCCCTCCCCACACCACAACAAACCGGATCCTTCCGCGGGGTGTCCTTCCGAGCCTCGTATACGTTGCGTCACACCAAGCCCTAGGAAACCTTCATATAGTGGAGACCGAGCTAAATAGGCTGGTATGGGTTTCTATTTGGAAGGGGTTACTCAAAAGTACCACCCCGGACTGAGAGAAAATAGTTCATTGCAACGGCGGAGGAACAAGATTGTAATTAGTTTGCCGGATCGTCTTTCCGGATGGACCGGCGGTGCACGTTTAAAGGCCAGTGATGCGCATGCGCGTTATGGAGACCGGAAGAGGAGCTGGTGTCCGTGGGTGGTGGAGTCAAACCGGCACTCCCCCGCAGACCTCAACCAGGTCGCTAGCCCCGCACCAGTGTTCTCTGTCCCTTCTCCCTGGTCTTAACGGTATGGGCCGCGGAAGGCGGCTCTGGGAGCCTGATTGCAAAGGACCCCTTATGCTGGCCCGCGGGATGGGGGGAGATGTACTAGGCTCCAGCTCTAGACACTGACACCTCTGGGGCTTTGAAATAAGGAAGGCAGGAAGCTGCTCACTCCCCGGGGATTATGGATTTTTAGGATTCTGAGTCCCAAGTAAAGGAAGGAAATCTTTATTTCATCCAAGGTTACAGGTAGAGAGATGGGGTTTCGATTCTTACCCCCCAAAAGTCACTGGGAGTCAGCATTTTAATGAACGCTTTCAACTGTTCTGTATTCACTTTTACCATGTACACATTTGTGGCATATACTCCTACAAAATAAGCCTGTGTGTATGTATACTTTAACTATTGGATGTTTAGCAACGGCGTATTTATCCAGTGTCAACTGTGTAAAACACCTGTTTGCCCATTTGTGAGCCTACAGTGCACTTACCAAACATCCGTGTACTTTTATTGTATTTATTGTGTATAGCCCCTGTGCATTTGGTACCAACTGTATGTACATTTAGTCCTATCGTGTGCATGTTCCTTGAGCAGTTTCTGAATAGGTTCATTGCAACTACAGTACTTTGAATGAGTATCATCAAACCAGTACTTTGTACATATACATCAGGCATCTACTGATTGGAGGATCATCTGTGTCATTCATCAGCTGTGGACCTACTGCATATAGTTTGAACACCTACTGTGCAAATATTTGAGTACTTGCGTACATGCTGATTAAGTAATTTTGTTTTCCCCCATCAGACTATGAATTCCTTAAGGGCAGGGACCATGTGGCCTTATACATCCTTAGCACTTGGCATGTTAAGCAGTAAATGAATGTTGAGTAAACAAAAGAAAAATGAATAAATGTCCTTAGTATATATTGACTGAAAAATATGAATACTTTTTGCAAACATTTCCTGTTTAACATATTAAACATCCACTGTAAGCTCGAGGCAGATAGGGAGTGTCATACCTTCGTGCAGTTAACTGTTCCTAATCAGATACTGTGCCAATTAGGTCCATCCTGCCTACTTCAGGACTGAGCTAAGGACATCCTGGCTGAGGGAACAGGGCACACAGGTAGGAAGGAGCTCATGCCCTGGGCTCAAAAGAGTCATGCCTTGCAGTCCCACCAGCTCTGCCATTTTCTAGTTTGTAACCTTGAACAAGTCCCAACTTCTGTAACTGAAATGGGGATAATAC
ACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCCATGCACACCTGGGACATGTCACTCTTCCCCTTCCTGATGCCCCAAAGCAGGGTAACAACACCTACACAAGGCCAGCCTGCCTAAGTCAGTCCAAGATAGAAAAAAGGAATTCAGGCCTCAACTACCCCCTACGTCAGCTATGCCTCTTTTTCCCACAGGCTTGCCCAACCACTTCAGGGAGTGCCTCCTTGAGGCTGCCCAGGACTCCTGCCTCTCCCTTCCACTAGCCTTCCTGACCCTCTACCCACTGCCACTCCCTCACCATGGACAAGGATACCTCAGAAATCTGTGGCCAGACTCCAAGAAGGAAGAAATTCGCTTACCCAACACCTCCTAGAGGATCTATCTGAAACCATCCTAGATCTGTGGCTGAGCACCAGAAAGCACCAAGTTGGATAAGGAGGCCTGTGGTGCCCTCCTCAGGTGGGAATGAAGCTTCCTATTCCATTTCAGCCAGGAGACACCCACTCAAAAACACCCTTTTCCAGCAAAGCTCAATTTCTGCCCTTGGAATCCCAACTGATCACTGAACATTATCATCACTTTTCCACCATATCAGCAAGGCAGCAGCTTGCCCTAGCCCTTGGGAGACTTCTAGCCTGAAGCCAGGCCTAGGAGGAAAGCTATGGCCTTTGTTGCTGACCCCTGGCAATCATGTTCCAAAAGGGACAGAATTCCATGGCTCCATTCTGTTCTGCGGGCCCAAGAGTGCCCTATCCTCTGGGATCTCCTACATCCTGGACCAGAGGAGAGTAGAAATCTTCTGAGAAGGACTCACACCCCACCACCAAGCTGACCGGTCCAAACATCTCCATAGGAAGTCAAGTCTGCGGGATGATGTGCAGAAAAGGCCTTGACATTGCCTTCAACGAGGAAAAGAAGAGGACAATTCCCTGAACCCACCTCAAGGGAGACAGAGCAATCCCTGTGAGACTGATTTCCTGACTGGTCCAGCAGGCCAGGATATTATCATAGATGAATTGGCCTGGCAAGGTATGAGTAAATATGAGTCAACCTACATAGGAATAAACCAATGACCACATCAAACACCCTCACAGTCACAATAATTACCACTTATCTAGTGCGTACTACATACAGACGCTACCTAGTTTAATTCAATCCTCTAAATAACCATTTCTGGGATCCATTTCACGGGCTCAGAGAGATTACTTCTACTTTCCCAAGGTCACACAGCTGCTCAGCTTCAAAGTGGAGTTTTGAACTCAAGTCTGTCTCCCTTCAGGACTGCGATCTTTCTATTAATACTATACTATGCTGCCTGCCTTAAAGGAAGTGATGACAACAGATTGGAGAAACGTCTTATTTTTACAGCCTCGACCTAGGTGGCCCGGGCTAAGAGATGTGCGGGGTGCCTCTCTGTGAACTCCCTCCGGCCCACTAGGAATCCCTGTCTTAAACCCGGAGTGATTCTGAAGGGCCGGGGTGGGGGTGGATCTCTGACTCCAGGTCACCTGTGGGCCTCACACCACGAGAGGACCCCTGGCCCAACACCCTTTTTCCGATCCGCGCCGCAACCACAACGGTCCCAGCCACCCCCTCTCCCCACCTCGAGCTGCCCTCCGCCCCAGACTTCGCCGCTGGCTATCCTACTGCTTCATTCCGTCTCGCCGCCGGCGAAAACCGGCCCCGGGGCTTACCGCGGGTGGGCGGATCTTGCAAATGCCCGATTTCTCTGCGATGGGCCTGATTTTCGCGATGCAGCCAAGAGGGTCTCGGAACTCGGCCCAGCTAGGCTCGAACACCGGGCACTCCGGTGGCGGTAGGAAATCGTCGGACCCCGGCTCCATGGTGGGCCCGAGGTCTGGGCCAGGGATCGGGAGGCTTGGACCGCCCTTAAGGACTCATGGCGCCGCCGCTGTTTGAAGCCGAGGCAATGCTCGGAGGCTAGGCCCTAAGCGGGGCAGCCGCCGCCCGCCGAGGGCCTAAGGGGGCGTGTGGCCGTCGTGCTCTGAGAGTCTCAGGCTGACTCTACTGCTACCGCCTCTTCGTCCCGCTCCGTTTCTTCCAAACTGTGTGGTTGCCTCCCCACTACCGCAGCCTTCGCCACCACAGTTACCTCCCAAACGCCGCGGCCTTCAGCGCCGCCGCCGCCATCTTGGTTTGTCAGCGTCTCCCCTCCCCACACCACAACAAACCGGATCCTTCCGCGGGGTGTCCTTCCGAGCCTCGTATACGTTGCGTCACACCAAGCCCTAGGAAACCTTCATATAGTGGAGACCGAGCTAAATAGGCTGGTATGGGTTTCTATTTGGAAGGGGTTACTCAAAAGTACCACCCCGGACTGAGAGAAAATAGTTCATTGCAACGGCGGAGGAACAAGATTGTAATTAGTTTGCCGGATCGTCTTTCCGGATGGACCGGCGGTGCACGTTTAAAGGCCAGTGATGCGCATGCGCGTTATGGAGACCGGAAGAGGAGCTGGTGTCCGTGGGTGGTGGAGTCAAACCGGCACTCCCCCGCAGACCTCAACCAGGTCGCTAGCCCCGCACCAGTGTTCTCTGTCCCTTCTCCCTGGTCTTAACGGTATGGGCCGCGGAAGGCGGCTCTGGGAGCCTGATTGCAAAGGACCCCTTATGCTGGCCCGCGGGATGGGGGGAGATGTACTAGGCTCCAGCTCTAGACACTGACACCTCTGGGGCTTTGAAATAAGGAAGGCAGGAAGCTGCTCACTCCCCGGGGATTATGGATTTTTAGGATTCTGAGTCCCAAGTAAAGGAAGGAAATCTTTATTTCATCCAAGGTTACAGGTAGAGAGATGGGGTTTCGATTCTTACCCCCCAAAAGTCACTGGGAGTCAGCATTTTAATGAACGCTTTCAACTGTTCTGTATTCACTTTTACCATGTACACATTTGTGGCATATACTCCTACAAAATAAGCCTGTGTGTATGTATACTTTAACTATTGGATGTTTAGCAACGGCGTATTTATCCAGTGTCAACTGTGTAAAACACCTGTTTGCCCATTTGTGAGCCTACAGTGCACTTACCAAACATCCGTGTACTTTTATTGTATTTATTGTGTATAGCCCCTGTGCATTTGGTACCAACTGTATGTACATTTAGTCCTATCGTGTGCATGTTCCTTGAGCAGTTTCTGAATAGGTTCATTGCAACTACAGTACTTTGAATGAGTATCATCAAACCAGTACTTTGTACATATACATCAGGCATCTACTGATTGGAGGATCATCTGTGTCATTCATCAGCTGTGGACCTACTGCATATAGTTTGAACACCTACTGTGCAAATATTTGAGTACTTGCGTACATGCTGATTAAGTAATTTTGTTTTCCCCCATCAGACTATGAATTCCTTAAGGGCAGGGACCATGTGGCCTTATACATCCTTAGCACTTGGCATGTTAAGCAGTAAATGAATGTTGAGTAAACAAAAGAAAAATGAATAAATGTCCTTAGTATATATTGACTGAAAAATATGAATACTTTTTGCAAACATTTCCTGTTTAACATATTAAACATCCACTGTAAGCTCGAGGCAGATAGGGAGTGTCATACCTTCGTGCAGTTAACTGTTCCTAATCAGATACTGTGCCAATTAGGTCCATCCTGCCTACTTCAGGACTGAGCTAAGGACATCCTGGCTGAGGGAACAGGGCACACAGGTAGGAAGGAGCTCATGCCCTGGGCTCAAAAGAGTCATGCCTTGCAGTCCCACCAGCTCTGCCATTTTCTAGTTTGTAACCTTGAACAAGTCCCAACTTCTGTAACTGAAATGGGGATAATAC
Task1_train_29945
This mutation is located in gene KDM5C, LOC130068308 (lysine demethylase 5C| ATAC-STARR-seq lymphoblastoid active region 29656) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type
ACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCCATGCACACCTGGGACATGTCACTCTTCCCCTTCCTGATGCCCCAAAGCAGGGTAACAACACCTACACAAGGCCAGCCTGCCTAAGTCAGTCCAAGATAGAAAAAAGGAATTCAGGCCTCAACTACCCCCTACGTCAGCTATGCCTCTTTTTCCCACAGGCTTGCCCAACCACTTCAGGGAGTGCCTCCTTGAGGCTGCCCAGGACTCCTGCCTCTCCCTTCCACTAGCCTTCCTGACCCTCTACCCACTGCCACTCCCTCACCATGGACAAGGATACCTCAGAAATCTGTGGCCAGACTCCAAGAAGGAAGAAATTCGCTTACCCAACACCTCCTAGAGGATCTATCTGAAACCATCCTAGATCTGTGGCTGAGCACCAGAAAGCACCAAGTTGGATAAGGAGGCCTGTGGTGCCCTCCTCAGGTGGGAATGAAGCTTCCTATTCCATTTCAGCCAGGAGACACCCACTCAAAAACACCCTTTTCCAGCAAAGCTCAATTTCTGCCCTTGGAATCCCAACTGATCACTGAACATTATCATCACTTTTCCACCATATCAGCAAGGCAGCAGCTTGCCCTAGCCCTTGGGAGACTTCTAGCCTGAAGCCAGGCCTAGGAGGAAAGCTATGGCCTTTGTTGCTGACCCCTGGCAATCATGTTCCAAAAGGGACAGAATTCCATGGCTCCATTCTGTTCTGCGGGCCCAAGAGTGCCCTATCCTCTGGGATCTCCTACATCCTGGACCAGAGGAGAGTAGAAATCTTCTGAGAAGGACTCACACCCCACCACCAAGCTGACCGGTCCAAACATCTCCATAGGAAGTCAAGTCTGCGGGATGATGTGCAGAAAAGGCCTTGACATTGCCTTCAACGAGGAAAAGAAGAGGACAATTCCCTGAACCCACCTCAAGGGAGACAGAGCAATCCCTGTGAGACTGATTTCCTGACTGGTCCAGCAGGCCAGGATATTATCATAGATGAATTGGCCTGGCAAGGTATGAGTAAATATGAGTCAACCTACATAGGAATAAACCAATGACCACATCAAACACCCTCACAGTCACAATAATTACCACTTATCTAGTGCGTACTACATACAGACGCTACCTAGTTTAATTCAATCCTCTAAATAACCATTTCTGGGATCCATTTCACGGGCTCAGAGAGATTACTTCTACTTTCCCAAGGTCACACAGCTGCTCAGCTTCAAAGTGGAGTTTTGAACTCAAGTCTGTCTCCCTTCAGGACTGCGATCTTTCTATTAATACTATACTATGCTGCCTGCCTTAAAGGAAGTGATGACAACAGATTGGAGAAACGTCTTATTTTTACAGCCTCGACCTAGGTGGCCCGGGCTAAGAGATGTGCGGGGTGCCTCTCTGTGAACTCCCTCCGGCCCACTAGGAATCCCTGTCTTAAACCCGGAGTGATTCTGAAGGGCCGGGGTGGGGGTGGATCTCTGACTCCAGGTCACCTGTGGGCCTCACACCACGAGAGGACCCCTGGCCCAACACCCTTTTTCCGATCCGCGCCGCAACCACAACGGTCCCAGCCACCCCCTCTCCCCACCTCGAGCTGCCCTCCGCCCCAGACTTCGCCGCTGGCTATCCTACTGCTTCATTCCGTCTCGCCGCCGGCGAAAACCGGCCCCGGGGCTTACCGCGGGTGGGCGGATCTTGCAAATGCCCGATTTCTCTGCGATGGGCCTGATTTTCGCGATGTAGCCAAGAGGGTCTCGGAACTCGGCCCAGCTAGGCTCGAACACCGGGCACTCCGGTGGCGGTAGGAAATCGTCGGACCCCGGCTCCATGGTGGGCCCGAGGTCTGGGCCAGGGATCGGGAGGCTTGGACCGCCCTTAAGGACTCATGGCGCCGCCGCTGTTTGAAGCCGAGGCAATGCTCGGAGGCTAGGCCCTAAGCGGGGCAGCCGCCGCCCGCCGAGGGCCTAAGGGGGCGTGTGGCCGTCGTGCTCTGAGAGTCTCAGGCTGACTCTACTGCTACCGCCTCTTCGTCCCGCTCCGTTTCTTCCAAACTGTGTGGTTGCCTCCCCACTACCGCAGCCTTCGCCACCACAGTTACCTCCCAAACGCCGCGGCCTTCAGCGCCGCCGCCGCCATCTTGGTTTGTCAGCGTCTCCCCTCCCCACACCACAACAAACCGGATCCTTCCGCGGGGTGTCCTTCCGAGCCTCGTATACGTTGCGTCACACCAAGCCCTAGGAAACCTTCATATAGTGGAGACCGAGCTAAATAGGCTGGTATGGGTTTCTATTTGGAAGGGGTTACTCAAAAGTACCACCCCGGACTGAGAGAAAATAGTTCATTGCAACGGCGGAGGAACAAGATTGTAATTAGTTTGCCGGATCGTCTTTCCGGATGGACCGGCGGTGCACGTTTAAAGGCCAGTGATGCGCATGCGCGTTATGGAGACCGGAAGAGGAGCTGGTGTCCGTGGGTGGTGGAGTCAAACCGGCACTCCCCCGCAGACCTCAACCAGGTCGCTAGCCCCGCACCAGTGTTCTCTGTCCCTTCTCCCTGGTCTTAACGGTATGGGCCGCGGAAGGCGGCTCTGGGAGCCTGATTGCAAAGGACCCCTTATGCTGGCCCGCGGGATGGGGGGAGATGTACTAGGCTCCAGCTCTAGACACTGACACCTCTGGGGCTTTGAAATAAGGAAGGCAGGAAGCTGCTCACTCCCCGGGGATTATGGATTTTTAGGATTCTGAGTCCCAAGTAAAGGAAGGAAATCTTTATTTCATCCAAGGTTACAGGTAGAGAGATGGGGTTTCGATTCTTACCCCCCAAAAGTCACTGGGAGTCAGCATTTTAATGAACGCTTTCAACTGTTCTGTATTCACTTTTACCATGTACACATTTGTGGCATATACTCCTACAAAATAAGCCTGTGTGTATGTATACTTTAACTATTGGATGTTTAGCAACGGCGTATTTATCCAGTGTCAACTGTGTAAAACACCTGTTTGCCCATTTGTGAGCCTACAGTGCACTTACCAAACATCCGTGTACTTTTATTGTATTTATTGTGTATAGCCCCTGTGCATTTGGTACCAACTGTATGTACATTTAGTCCTATCGTGTGCATGTTCCTTGAGCAGTTTCTGAATAGGTTCATTGCAACTACAGTACTTTGAATGAGTATCATCAAACCAGTACTTTGTACATATACATCAGGCATCTACTGATTGGAGGATCATCTGTGTCATTCATCAGCTGTGGACCTACTGCATATAGTTTGAACACCTACTGTGCAAATATTTGAGTACTTGCGTACATGCTGATTAAGTAATTTTGTTTTCCCCCATCAGACTATGAATTCCTTAAGGGCAGGGACCATGTGGCCTTATACATCCTTAGCACTTGGCATGTTAAGCAGTAAATGAATGTTGAGTAAACAAAAGAAAAATGAATAAATGTCCTTAGTATATATTGACTGAAAAATATGAATACTTTTTGCAAACATTTCCTGTTTAACATATTAAACATCCACTGTAAGCTCGAGGCAGATAGGGAGTGTCATACCTTCGTGCAGTTAACTGTTCCTAATCAGATACTGTGCCAATTAGGTCCATCCTGCCTACTTCAGGACTGAGCTAAGGACATCCTGGCTGAGGGAACAGGGCACACAGGTAGGAAGGAGCTCATGCCCTGGGCTCAAAAGAGTCATGCCTTGCAGTCCCACCAGCTCTGCCATTTTCTAGTTTGTAACCTTGAACAAGTCCCAACTTCTGTAACTGAAATGGGGATAATACATACCTTGC
ACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCCATGCACACCTGGGACATGTCACTCTTCCCCTTCCTGATGCCCCAAAGCAGGGTAACAACACCTACACAAGGCCAGCCTGCCTAAGTCAGTCCAAGATAGAAAAAAGGAATTCAGGCCTCAACTACCCCCTACGTCAGCTATGCCTCTTTTTCCCACAGGCTTGCCCAACCACTTCAGGGAGTGCCTCCTTGAGGCTGCCCAGGACTCCTGCCTCTCCCTTCCACTAGCCTTCCTGACCCTCTACCCACTGCCACTCCCTCACCATGGACAAGGATACCTCAGAAATCTGTGGCCAGACTCCAAGAAGGAAGAAATTCGCTTACCCAACACCTCCTAGAGGATCTATCTGAAACCATCCTAGATCTGTGGCTGAGCACCAGAAAGCACCAAGTTGGATAAGGAGGCCTGTGGTGCCCTCCTCAGGTGGGAATGAAGCTTCCTATTCCATTTCAGCCAGGAGACACCCACTCAAAAACACCCTTTTCCAGCAAAGCTCAATTTCTGCCCTTGGAATCCCAACTGATCACTGAACATTATCATCACTTTTCCACCATATCAGCAAGGCAGCAGCTTGCCCTAGCCCTTGGGAGACTTCTAGCCTGAAGCCAGGCCTAGGAGGAAAGCTATGGCCTTTGTTGCTGACCCCTGGCAATCATGTTCCAAAAGGGACAGAATTCCATGGCTCCATTCTGTTCTGCGGGCCCAAGAGTGCCCTATCCTCTGGGATCTCCTACATCCTGGACCAGAGGAGAGTAGAAATCTTCTGAGAAGGACTCACACCCCACCACCAAGCTGACCGGTCCAAACATCTCCATAGGAAGTCAAGTCTGCGGGATGATGTGCAGAAAAGGCCTTGACATTGCCTTCAACGAGGAAAAGAAGAGGACAATTCCCTGAACCCACCTCAAGGGAGACAGAGCAATCCCTGTGAGACTGATTTCCTGACTGGTCCAGCAGGCCAGGATATTATCATAGATGAATTGGCCTGGCAAGGTATGAGTAAATATGAGTCAACCTACATAGGAATAAACCAATGACCACATCAAACACCCTCACAGTCACAATAATTACCACTTATCTAGTGCGTACTACATACAGACGCTACCTAGTTTAATTCAATCCTCTAAATAACCATTTCTGGGATCCATTTCACGGGCTCAGAGAGATTACTTCTACTTTCCCAAGGTCACACAGCTGCTCAGCTTCAAAGTGGAGTTTTGAACTCAAGTCTGTCTCCCTTCAGGACTGCGATCTTTCTATTAATACTATACTATGCTGCCTGCCTTAAAGGAAGTGATGACAACAGATTGGAGAAACGTCTTATTTTTACAGCCTCGACCTAGGTGGCCCGGGCTAAGAGATGTGCGGGGTGCCTCTCTGTGAACTCCCTCCGGCCCACTAGGAATCCCTGTCTTAAACCCGGAGTGATTCTGAAGGGCCGGGGTGGGGGTGGATCTCTGACTCCAGGTCACCTGTGGGCCTCACACCACGAGAGGACCCCTGGCCCAACACCCTTTTTCCGATCCGCGCCGCAACCACAACGGTCCCAGCCACCCCCTCTCCCCACCTCGAGCTGCCCTCCGCCCCAGACTTCGCCGCTGGCTATCCTACTGCTTCATTCCGTCTCGCCGCCGGCGAAAACCGGCCCCGGGGCTTACCGCGGGTGGGCGGATCTTGCAAATGCCCGATTTCTCTGCGATGGGCCTGATTTTCGCGATGTAGCCAAGAAGGTCTCGGAACTCGGCCCAGCTAGGCTCGAACACCGGGCACTCCGGTGGCGGTAGGAAATCGTCGGACCCCGGCTCCATGGTGGGCCCGAGGTCTGGGCCAGGGATCGGGAGGCTTGGACCGCCCTTAAGGACTCATGGCGCCGCCGCTGTTTGAAGCCGAGGCAATGCTCGGAGGCTAGGCCCTAAGCGGGGCAGCCGCCGCCCGCCGAGGGCCTAAGGGGGCGTGTGGCCGTCGTGCTCTGAGAGTCTCAGGCTGACTCTACTGCTACCGCCTCTTCGTCCCGCTCCGTTTCTTCCAAACTGTGTGGTTGCCTCCCCACTACCGCAGCCTTCGCCACCACAGTTACCTCCCAAACGCCGCGGCCTTCAGCGCCGCCGCCGCCATCTTGGTTTGTCAGCGTCTCCCCTCCCCACACCACAACAAACCGGATCCTTCCGCGGGGTGTCCTTCCGAGCCTCGTATACGTTGCGTCACACCAAGCCCTAGGAAACCTTCATATAGTGGAGACCGAGCTAAATAGGCTGGTATGGGTTTCTATTTGGAAGGGGTTACTCAAAAGTACCACCCCGGACTGAGAGAAAATAGTTCATTGCAACGGCGGAGGAACAAGATTGTAATTAGTTTGCCGGATCGTCTTTCCGGATGGACCGGCGGTGCACGTTTAAAGGCCAGTGATGCGCATGCGCGTTATGGAGACCGGAAGAGGAGCTGGTGTCCGTGGGTGGTGGAGTCAAACCGGCACTCCCCCGCAGACCTCAACCAGGTCGCTAGCCCCGCACCAGTGTTCTCTGTCCCTTCTCCCTGGTCTTAACGGTATGGGCCGCGGAAGGCGGCTCTGGGAGCCTGATTGCAAAGGACCCCTTATGCTGGCCCGCGGGATGGGGGGAGATGTACTAGGCTCCAGCTCTAGACACTGACACCTCTGGGGCTTTGAAATAAGGAAGGCAGGAAGCTGCTCACTCCCCGGGGATTATGGATTTTTAGGATTCTGAGTCCCAAGTAAAGGAAGGAAATCTTTATTTCATCCAAGGTTACAGGTAGAGAGATGGGGTTTCGATTCTTACCCCCCAAAAGTCACTGGGAGTCAGCATTTTAATGAACGCTTTCAACTGTTCTGTATTCACTTTTACCATGTACACATTTGTGGCATATACTCCTACAAAATAAGCCTGTGTGTATGTATACTTTAACTATTGGATGTTTAGCAACGGCGTATTTATCCAGTGTCAACTGTGTAAAACACCTGTTTGCCCATTTGTGAGCCTACAGTGCACTTACCAAACATCCGTGTACTTTTATTGTATTTATTGTGTATAGCCCCTGTGCATTTGGTACCAACTGTATGTACATTTAGTCCTATCGTGTGCATGTTCCTTGAGCAGTTTCTGAATAGGTTCATTGCAACTACAGTACTTTGAATGAGTATCATCAAACCAGTACTTTGTACATATACATCAGGCATCTACTGATTGGAGGATCATCTGTGTCATTCATCAGCTGTGGACCTACTGCATATAGTTTGAACACCTACTGTGCAAATATTTGAGTACTTGCGTACATGCTGATTAAGTAATTTTGTTTTCCCCCATCAGACTATGAATTCCTTAAGGGCAGGGACCATGTGGCCTTATACATCCTTAGCACTTGGCATGTTAAGCAGTAAATGAATGTTGAGTAAACAAAAGAAAAATGAATAAATGTCCTTAGTATATATTGACTGAAAAATATGAATACTTTTTGCAAACATTTCCTGTTTAACATATTAAACATCCACTGTAAGCTCGAGGCAGATAGGGAGTGTCATACCTTCGTGCAGTTAACTGTTCCTAATCAGATACTGTGCCAATTAGGTCCATCCTGCCTACTTCAGGACTGAGCTAAGGACATCCTGGCTGAGGGAACAGGGCACACAGGTAGGAAGGAGCTCATGCCCTGGGCTCAAAAGAGTCATGCCTTGCAGTCCCACCAGCTCTGCCATTTTCTAGTTTGTAACCTTGAACAAGTCCCAACTTCTGTAACTGAAATGGGGATAATACATACCTTGC
Task1_train_29946
A mutation found in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Intellectual disability, X-linked 1
GCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCGCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCTTAGTGCCCAGCTCCTGTCTTGCACCCTCCCTTCCTGCTCAGCCTTCCCTTCATCCCTCTTGGTGCCTGCTCTCCCTGTTCCCTTTCCCTTCCTTTCACCCTTCTGACTTCTCCCCTCCCATGCCCTCTTGCAATCAGGTCTCCCAAAGCACCCCTGCCCTTCAAAAAAGAGCTTCATGGCAGATGGTTCACAGTAAGGATGGTAAGGCCCTTCTAGCCTATGGCAAAGGGCAATCTTTCCAGAGTTCAGTCAGTTCTCAGATACCTTGCTCCGGAGCAGAGGGGCTCCTGGAAGGGCAGGAGCAGGAAACTGACAGGAATCAAATCCTCTTATTATGTGCCAGGCAGTATGCTGGGCGCTACACATACTTGATCTCTCTCAGTCCTCACAACAGTTCTGAGGTCAGTATTAGCATCCACATTGTGCAGAGGAAGAAACTGAGTATCCGAGAAGTCTTAGAGCTTGCCCAGGGTCATACAGCTGGAAATGGCAGAGCCGACATTCTGGAAGCAGGTCTGCCTGATTCCAGAGCTTGGGTGCTTCCGGCCTCCTACAGCCCCACCTCCCCACGGAGCTCATAGAAACACGTGTCTACTGGCCTCCCCTCGTCTTGGGCTACTAATCCCTCTCTCAGGATTTCCCCAGGGTCTCAAAGGATCTGGTGAACTGAAATTTCTATCCCTGCCTCGCTGAGAAGTAGAGTGGCCCTGGAGCTGTGAAGGCCTCACCAAGGAGCTGTCCGCCGCCTCGTCTCTGTCTGCCTGCCTCTTTCTCCTTAACACCATGTTACTTAACTGTGACTGCTTAGCCTGGAGAAGAGAAAACTTGGAGGGCATCGGGAGGAATGAGATGTAATCACTATTTTCCATTATATATATATGATCAAAATGACTTGGTGTGGCCCCTGGGGGCTGAGAGGATAGCCCACTGGGATTCAGCTCAGGAATTGATATGTGGGCAGAGGAGGAGAGAGGGTGGGACAGGAAATACGGATTTTTTGAATGCCTAAGATGTGTTGGGACATTTCGGCTACCTTGTCTCATTTCATCTCCATGACTCTGTGAAGGAGACTTCATTACCCCAATTTCGTATAGGAAGAAACTGGGGCTTGGCAGGTTAGGCAATTTGCTGCAGTTCACCCAGATAATGAGTAGTATACCTGGGATCTAAAACTATAGTCCTACCTCCAATACTCTGATTCTTCTCCCTGATACCTTTCACTAGAAGGAATAGTTGGCTCATAATTAGAGTTCAGGATAATAATGGGGTTGGGAGGTAATGAGCCCCTTGTCACTGAAGGTATTCAAGCAGAGGCTGAAGAATTCTTGAAATGAGGATGGGAAGGTTGGACAAGCTAACCCTCAACTCTGAGATTCTCTGAGGATAGGATTCTTGGTTTCTGCAGGGTACTGTTTCAGGAGAGCAGGGAGGAGACATGGCTGGGCTACTCACACTCCACACGGTATTTCTCCATCTCCTGCACCTCCGCAATGGACTCGCGCAGGTCGGATGTAAAGCGCAGCCGGTCCTGGAGGCTGGGGGCATTGAAGATGATGAGGACTTTTCGCTCCCCACCAGGTACTGCAGACAGCAACTTGATCCCAAACTGGTAATCTGTGGAGAAAGGGGAGACTGGGCACCTCTGTTGGGACTGGTGCAAGGTGGCTCATACATAAAATAATTTTTCTTTTCTGCTCTTTTTTTTCTGAGACAACATCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCTGGGTAGCTGGGACCATGGGCACGCACCACATGCGCAGA
GCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCCCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCTTAGTGCCCAGCTCCTGTCTTGCACCCTCCCTTCCTGCTCAGCCTTCCCTTCATCCCTCTTGGTGCCTGCTCTCCCTGTTCCCTTTCCCTTCCTTTCACCCTTCTGACTTCTCCCCTCCCATGCCCTCTTGCAATCAGGTCTCCCAAAGCACCCCTGCCCTTCAAAAAAGAGCTTCATGGCAGATGGTTCACAGTAAGGATGGTAAGGCCCTTCTAGCCTATGGCAAAGGGCAATCTTTCCAGAGTTCAGTCAGTTCTCAGATACCTTGCTCCGGAGCAGAGGGGCTCCTGGAAGGGCAGGAGCAGGAAACTGACAGGAATCAAATCCTCTTATTATGTGCCAGGCAGTATGCTGGGCGCTACACATACTTGATCTCTCTCAGTCCTCACAACAGTTCTGAGGTCAGTATTAGCATCCACATTGTGCAGAGGAAGAAACTGAGTATCCGAGAAGTCTTAGAGCTTGCCCAGGGTCATACAGCTGGAAATGGCAGAGCCGACATTCTGGAAGCAGGTCTGCCTGATTCCAGAGCTTGGGTGCTTCCGGCCTCCTACAGCCCCACCTCCCCACGGAGCTCATAGAAACACGTGTCTACTGGCCTCCCCTCGTCTTGGGCTACTAATCCCTCTCTCAGGATTTCCCCAGGGTCTCAAAGGATCTGGTGAACTGAAATTTCTATCCCTGCCTCGCTGAGAAGTAGAGTGGCCCTGGAGCTGTGAAGGCCTCACCAAGGAGCTGTCCGCCGCCTCGTCTCTGTCTGCCTGCCTCTTTCTCCTTAACACCATGTTACTTAACTGTGACTGCTTAGCCTGGAGAAGAGAAAACTTGGAGGGCATCGGGAGGAATGAGATGTAATCACTATTTTCCATTATATATATATGATCAAAATGACTTGGTGTGGCCCCTGGGGGCTGAGAGGATAGCCCACTGGGATTCAGCTCAGGAATTGATATGTGGGCAGAGGAGGAGAGAGGGTGGGACAGGAAATACGGATTTTTTGAATGCCTAAGATGTGTTGGGACATTTCGGCTACCTTGTCTCATTTCATCTCCATGACTCTGTGAAGGAGACTTCATTACCCCAATTTCGTATAGGAAGAAACTGGGGCTTGGCAGGTTAGGCAATTTGCTGCAGTTCACCCAGATAATGAGTAGTATACCTGGGATCTAAAACTATAGTCCTACCTCCAATACTCTGATTCTTCTCCCTGATACCTTTCACTAGAAGGAATAGTTGGCTCATAATTAGAGTTCAGGATAATAATGGGGTTGGGAGGTAATGAGCCCCTTGTCACTGAAGGTATTCAAGCAGAGGCTGAAGAATTCTTGAAATGAGGATGGGAAGGTTGGACAAGCTAACCCTCAACTCTGAGATTCTCTGAGGATAGGATTCTTGGTTTCTGCAGGGTACTGTTTCAGGAGAGCAGGGAGGAGACATGGCTGGGCTACTCACACTCCACACGGTATTTCTCCATCTCCTGCACCTCCGCAATGGACTCGCGCAGGTCGGATGTAAAGCGCAGCCGGTCCTGGAGGCTGGGGGCATTGAAGATGATGAGGACTTTTCGCTCCCCACCAGGTACTGCAGACAGCAACTTGATCCCAAACTGGTAATCTGTGGAGAAAGGGGAGACTGGGCACCTCTGTTGGGACTGGTGCAAGGTGGCTCATACATAAAATAATTTTTCTTTTCTGCTCTTTTTTTTCTGAGACAACATCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCTGGGTAGCTGGGACCATGGGCACGCACCACATGCGCAGA
Task1_train_29947
This variant lies on Chromosome X and affects the gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
AGTTCTGGGACTATAGGTGTGAGCCACAGTGCCGAGCCCACTTCAAGCATCTTGATTACTGAAGATTTCCAGACTGACCTGGGGGGTCGCAGGTTCACCCCTCTTCACACAACCCTATGGGCTATTGAGGTGGACAGGGATATTTCCTACCACTTCCCAGGTTGTAAGTCTGTCATCTCCTTTGGTCCTCATATTTTCTGTCCCTGTGTGTCTGTTACTACCTCCAAATGCATCTGTGAGGAAAAGGAGGGGCAGAGAAGGCCTGGGCCTTGCCTGAGACCATGCAGATGGCATGGCAGAACACCTCGCCCGCCACACTCCACACACCACACACCTACATCAATATGGTTCACACCAGACTTAGGTGTCAAGCTCACTCTCTCCCTCCCATCTCCTCCCCCACAGTGCTCATACCACAAGGAGATCATTGAAGAGGAAGACCTCCCGCTGATGCAACCCTAGCCTCTGGGGGCGGTTTGGATCTGGCACCTCGTAGAGCTGGCAGCAGCAAACCAGTCGACGGTGAGGGAGAGACAGGACCTAGACAGGCATGAAGAAACAGGTGTCAGCAAGGCCAGCCCATCAGCTTCAGGCCTCCTGGCACCTTAACTTTCAACCGCAAGAAGTTTACCACTCATACATGTGTGTCACTCTGACACAAGGGGTATCAGCAACTAAGACCTAAACTTATCTGCTACCTTGCCTTTGCCCTTCTGTCTGGAATGTCTTTCTTGCCCAGCTCTGCATGGTCATATTTCAACTCCCTTTCAAATTTCCATCCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGCAATCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGTAGAGGTTGCAATGAGCCGAGATCATGCCACTCCACTCCAGCCTGAGTGACAGAGTGAAACTCCATGTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTCAATCCCAAAATGATCTCTTCCAAGAAGCCTTCCCTGATTTCTCCAGGCTGAAAATGGTCTCTCTCTCCTTTCTCCTCTCCTAAACTGGACCATAAAGCAGAAGTATTATATGTGTCTTTGTTTCACACCCCGACTGGTCTGTGAGTGCCCCCAAGGATAGAGAACACGTCTGATTCATATCTATGAATGCCCAGCACCAACTCTGGTGCCCAGCAAATGCTGGGCTCAGTGGAAAGGCATCCACAAATGTTTGTTGGCTAAAGCGTTTTCTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCCAGGCTGGAGTGCGTTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTCCAGGCATGCACCATCACGCCCGCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGATAGCCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCATTGTACCTGGCCTAAAGTGTGTTCTTACTTTGGTTTTCTGCTAACCATTAGCTTGGCTCTTCACTTAGGATGGACAGGCAAAGCCGGAGGTGAAAAGGATGCTAATATTTATATAGTACCCACTATGGGCCTTGGAATGTGCTCGATGCATTCACTCTGCACCACAGCCTTCTGAGGAATGCATTATCACCCACTCTGTATTGCAGGTAAAGGGCACCTGGGGCTCAGGGAGGTGCAGTGACTTACCACTTAGTGGCAGAGGCAGACCTGAACCCTGGCCCCTCTGCAGCCTCCCAAGGCACTTACTGGTTTCTTTCCAACAATCATGCGCTCCACAGCCTGCACCTGGGACACATGGTCATCGTTGGTCCGCAGTTCACGCCCCTGGATGCGCTGGTAGATGCCCACCAGGAGGTCTCGGGGGATGTCTTCACCATTGTCAACCCCTGGGGGAGGGAGTAACACAGGGATATGTCACATAATTATGGGCACTGGGTGGTAGGGGTGCTCCACCACCCCCACACCCAGGCACGGGCCACGATAGTCAGGACTGAGGGTCAATGGGTACCCTCGGCCCCTTAGCCAGGATTGGGGCAGGGAGGGTGTCCTTCAGTACAACAGCCAGTTGCTATCTTCCCCAGAGTGGGGAATTTTTTCTCAACAACTCAGAATACACTGTAATTAAAACAATCAGATACTATTGTTTGCCTTCCTAATTAGCAAAAATAATTTAAAATGAAATCCAGTGCTAGGAAGAGTGCAGGGAAGTGGGCATGTATGGTAACATAACTCTTTTGGAAGGTAATTTGGCAAGAACCTAAATGTTTGTACCCAGTGATTCTCTTCTAGGAATCTACCCTAAGGAACTACTCAGAAATATGTGCAAGAGGTATGTGCAAGAATGCTAGTGCAGGCGGGGCATGGTGGCTCACGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCATCTGTACTAAAAATACAAAAAATTAGCCAGGCATGGCACCATGTGCCTGTAGTCCCAGGTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGCTGTAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGAGCAACAAGATTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAAAAGAATGCTAGGGCAGGCGTGGTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTCGAGCCCAGGAATTCGAGAGCCAACCTGGGCAACATGGCAAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGCCCCAGCTACTTGGGAGGCTGAAGTGGGATAATAGCTTGAGCCTGGGAGGAGGAGGTTGCAGTGAACCATGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACTCACTAAGTGTTACTTATGGGGACAATTTGAAACAACCTAAATTTTAACAATAGAGGATAGTATATCCATTTAATAAGATAATGCACAGCTATTAAAAACTTGACATTTACAAAAACATTTCAATAGCATGAGAAAATTACAGTAGCAAATTATGGGAAAAGAGTAAGATAAATTGCATGTGTGGTATGATCTGAACTATATAAAAAGTTACATATGCATGGGGGAAAAGATTAGAACGCACCAAAACATTAACTATGATTGCCTCTAGGGGGCACATTTTGGGTGATAAAAAGAAATTTTCTAATTTTCTGAATCTTCCAACATTTCTGAAATAAAGTATGTATTACCTTCATTTATTTGCTTATTTATTTAATAATTAGAGGGGGAAGTTACACATACACACACACACACCCACACACACACACACATATATTGAGAGAGAGAGGGAAAAAGAATGGATGAATGAATGATGGCAAAATTCTAGGAGACAGCTCCAAATGGCCTCTGATCTAACTCCCTCCTCCCATGTTCACCATCCTTCTCCACTTCTGATTGCTGAGTGAAACCCACTCACTCTTCTCTCTAAATCCTCTACTAGAGAAAATGTTTTCTGGGCAGGACGTGGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGAGGCAAGGAGTTTGAGACCAGCCTGGGCAACCTAGCAAGACCCTGTCTCTACAAAAAATTTAGAAATTAGTTGGGCATGGTGGCACGCGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTCTGCTAGCACCACTGCAATCCAGCCTGGGTGAGAGAGTGAGACCCTGTCTCTAAAAATAAAAAAAAAAAAAACAAATAAAATAAAAAAA
AGTTCTGGGACTATAGGTGTGAGCCACAGTGCCGAGCCCACTTCAAGCATCTTGATTACTGAAGATTTCCAGACTGACCTGGGGGGTCGCAGGTTCACCCCTCTTCACACAACCCTATGGGCTATTGAGGTGGACAGGGATATTTCCTACCACTTCCCAGGTTGTAAGTCTGTCATCTCCTTTGGTCCTCATATTTTCTGTCCCTGTGTGTCTGTTACTACCTCCAAATGCATCTGTGAGGAAAAGGAGGGGCAGAGAAGGCCTGGGCCTTGCCTGAGACCATGCAGATGGCATGGCAGAACACCTCGCCCGCCACACTCCACACACCACACACCTACATCAATATGGTTCACACCAGACTTAGGTGTCAAGCTCACTCTCTCCCTCCCATCTCCTCCCCCACAGTGCTCATACCACAAGGAGATCATTGAAGAGGAAGACCTCCCGCTGATGCAACCCTAGCCTCTGGGGGCGGTTTGGATCTGGCACCTCGTAGAGCTGGCAGCAGCAAACCAGTCGACGGTGAGGGAGAGACAGGACCTAGACAGGCATGAAGAAACAGGTGTCAGCAAGGCCAGCCCATCAGCTTCAGGCCTCCTGGCACCTTAACTTTCAACCGCAAGAAGTTTACCACTCATACATGTGTGTCACTCTGACACAAGGGGTATCAGCAACTAAGACCTAAACTTATCTGCTACCTTGCCTTTGCCCTTCTGTCTGGAATGTCTTTCTTGCCCAGCTCTGCATGGTCATATTTCAACTCCCTTTCAAATTTCCATCCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGCAATCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGTAGAGGTTGCAATGAGCCGAGATCATGCCACTCCACTCCAGCCTGAGTGACAGAGTGAAACTCCATGTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTCAATCCCAAAATGATCTCTTCCAAGAAGCCTTCCCTGATTTCTCCAGGCTGAAAATGGTCTCTCTCTCCTTTCTCCTCTCCTAAACTGGACCATAAAGCAGAAGTATTATATGTGTCTTTGTTTCACACCCCGACTGGTCTGTGAGTGCCCCCAAGGATAGAGAACACGTCTGATTCATATCTATGAATGCCCAGCACCAACTCTGGTGCCCAGCAAATGCTGGGCTCAGTGGAAAGGCATCCACAAATGTTTGTTGGCTAAAGCGTTTTCTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCCAGGCTGGAGTGCGTTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTCCAGGCATGCACCATCACGCCCGCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGATAGCCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCATTGTACCTGGCCTAAAGTGTGTTCTTACTTTGGTTTTCTGCTAACCATTAGCTTGGCTCTTCACTTAGGATGGACAGGCAAAGCCGGAGGTGAAAAGGATGCTAATATTTATATAGTACCCACTATGGGCCTTGGAATGTGCTCGATGCATTCACTCTGCACCACAGCCTTCTGAGGAATGCATTATCACCCACTCTGTATTGCAGGTAAAGGGCACCTGGGGCTCAGGGAGGTGCAGTGACTTACCACTTAGTGGCAGAGGCAGACCTGAACCCTGGCCCCTCTGCAGCCTCCCAAGGCACTTACTGGTTTCTTTCCAACAATCATGCGCTCCACAGCCTGCACCTGGGACACATGGTCATCGTTGGTCCGCAGTTCACGCCCCTGGATGCACTGGTAGATGCCCACCAGGAGGTCTCGGGGGATGTCTTCACCATTGTCAACCCCTGGGGGAGGGAGTAACACAGGGATATGTCACATAATTATGGGCACTGGGTGGTAGGGGTGCTCCACCACCCCCACACCCAGGCACGGGCCACGATAGTCAGGACTGAGGGTCAATGGGTACCCTCGGCCCCTTAGCCAGGATTGGGGCAGGGAGGGTGTCCTTCAGTACAACAGCCAGTTGCTATCTTCCCCAGAGTGGGGAATTTTTTCTCAACAACTCAGAATACACTGTAATTAAAACAATCAGATACTATTGTTTGCCTTCCTAATTAGCAAAAATAATTTAAAATGAAATCCAGTGCTAGGAAGAGTGCAGGGAAGTGGGCATGTATGGTAACATAACTCTTTTGGAAGGTAATTTGGCAAGAACCTAAATGTTTGTACCCAGTGATTCTCTTCTAGGAATCTACCCTAAGGAACTACTCAGAAATATGTGCAAGAGGTATGTGCAAGAATGCTAGTGCAGGCGGGGCATGGTGGCTCACGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCATCTGTACTAAAAATACAAAAAATTAGCCAGGCATGGCACCATGTGCCTGTAGTCCCAGGTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGCTGTAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGAGCAACAAGATTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAAAAGAATGCTAGGGCAGGCGTGGTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTCGAGCCCAGGAATTCGAGAGCCAACCTGGGCAACATGGCAAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGCCCCAGCTACTTGGGAGGCTGAAGTGGGATAATAGCTTGAGCCTGGGAGGAGGAGGTTGCAGTGAACCATGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACTCACTAAGTGTTACTTATGGGGACAATTTGAAACAACCTAAATTTTAACAATAGAGGATAGTATATCCATTTAATAAGATAATGCACAGCTATTAAAAACTTGACATTTACAAAAACATTTCAATAGCATGAGAAAATTACAGTAGCAAATTATGGGAAAAGAGTAAGATAAATTGCATGTGTGGTATGATCTGAACTATATAAAAAGTTACATATGCATGGGGGAAAAGATTAGAACGCACCAAAACATTAACTATGATTGCCTCTAGGGGGCACATTTTGGGTGATAAAAAGAAATTTTCTAATTTTCTGAATCTTCCAACATTTCTGAAATAAAGTATGTATTACCTTCATTTATTTGCTTATTTATTTAATAATTAGAGGGGGAAGTTACACATACACACACACACACCCACACACACACACACATATATTGAGAGAGAGAGGGAAAAAGAATGGATGAATGAATGATGGCAAAATTCTAGGAGACAGCTCCAAATGGCCTCTGATCTAACTCCCTCCTCCCATGTTCACCATCCTTCTCCACTTCTGATTGCTGAGTGAAACCCACTCACTCTTCTCTCTAAATCCTCTACTAGAGAAAATGTTTTCTGGGCAGGACGTGGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGAGGCAAGGAGTTTGAGACCAGCCTGGGCAACCTAGCAAGACCCTGTCTCTACAAAAAATTTAGAAATTAGTTGGGCATGGTGGCACGCGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTCTGCTAGCACCACTGCAATCCAGCCTGGGTGAGAGAGTGAGACCCTGTCTCTAAAAATAAAAAAAAAAAAAACAAATAAAATAAAAAAA
Task1_train_29948
Consider this mutation in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; Inborn genetic diseases
TGGCCAGGCTGGTCTGGAACTCCTGGCCTCATGGGATCCACCTGCCTCAGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCAACGTACCCAGCCCTCAATTGTTCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCACCCATCATGGGGCTTGGCACACACTAAGCGCTAAGTGTTGACTGGCTGGCTGGTTGTTTGGTCGAGTGATAAATGAATGCATGAATAGAGGAAAAGGTACCTAAAATAATTAAATGAGTCCTCATGGGCATAAATAAGAGAGGGAAAGAAGGAGCGAGGAAAGGACAAGTGAATTACTGAATGAATGAATGAATGAATCAGAGTAAAGCCTTGTAAGAGTCAGGACTTTAATCTATCATGTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCA
TGGCCAGGCTGGTCTGGAACTCCTGGCCTCATGGGATCCACCTGCCTCAGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCAACGTACCCAGCCCTCAATTGTTCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCACCCATCATGGGGCTTGGCACACACTAAGCGCTAAGTGTTGACTGGCTGGCTGGTTGTTTGGTCGAGTGATAAATGAATGCATGAATAGAGGAAAAGGTACCTAAAATAATTAAATGAGTCCTCATGGGCATAAATAAGAGAGGGAAAGAAGGAGCGAGGAAAGGACAAGTGAATTACTGAATGAATGAATGAATGAATCAGAGTAAAGCCTTGTAAGAGTCAGGACTTTAATCTATCATGTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACGTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCA
Task1_train_29949
The gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Intellectual disability, X-linked 1
TCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCACCCATCATGGGGCTTGGCACACACTAAGCGCTAAGTGTTGACTGGCTGGCTGGTTGTTTGGTCGAGTGATAAATGAATGCATGAATAGAGGAAAAGGTACCTAAAATAATTAAATGAGTCCTCATGGGCATAAATAAGAGAGGGAAAGAAGGAGCGAGGAAAGGACAAGTGAATTACTGAATGAATGAATGAATGAATCAGAGTAAAGCCTTGTAAGAGTCAGGACTTTAATCTATCATGTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACG
TCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCACCCATCATGGGGCTTGGCACACACTAAGCGCTAAGTGTTGACTGGCTGGCTGGTTGTTTGGTCGAGTGATAAATGAATGCATGAATAGAGGAAAAGGTACCTAAAATAATTAAATGAGTCCTCATGGGCATAAATAAGAGAGGGAAAGAAGGAGCGAGGAAAGGACAAGTGAATTACTGAATGAATGAATGAATGAATCAGAGTAAAGCCTTGTAAGAGTCAGGACTTTAATCTATCATGTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCGTCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACG
Task1_train_29950
Given a variant located on Chromosome X and affecting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Intellectual disability, X-linked 1
GTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGA
GTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCGGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGA
Task1_train_29951
Gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Intellectual disability, X-linked 1
ACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAG
ACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTGGGTTCCGGAACTGGCGCACGAGGGCTGGGTTACAGACACAGTACCGCTGGCTGCAGGGCAGGAGGGGTCAAAGCCAGACTCAGGAACCAGCCATCTCTGCCTACCCACCATCCACCCAGTCTGGCACCAGCAACCCTTTCCTGCAAGAAATACTTTCTTGATCTCTGGGTCTGTCCTCTTCAGAGCTTCCCCTAGACCAGCATGTAAAAATCACAATCGCTACCTTTTACAGAGCTCTTCCAGGGGATTTATGTACGTTGTTTCACGTAATCCTATCATAATCCTGCAAGGTAGCTATTGGCAGTCCCATTTTACAGATGAAGTGACTAAGACTCAAAGTGGCGAGGTAACTTGCCCAAGGTAATAGAGCTGGTAAATGGTGAAGCCAGGATGAAAACCCAGTTATTTCTGACTGCAAAGCAAATCCTTCCCCCATTGTGGGAAACAAGTTCTCAGCAACTCCTGTTTCTCTTCTAAATACCCTAAAGTGGCAGAGCCAGGATTTAGACCCCAGTCTATCTGATCTCCAAAGCATTTATAGTACAGTAAAATGGTTAAGGGCATGGATGGATCATGGACTCAGACACATACGAGTTCAAATCCTGTTTCTACCACTTATTCACTGTATGAGCCTGGGCAAGTTACTTAACCTCTCTAAACTTCTGATTTCTCATCTGTAAAATGGGAATAATAACAGAAGTGCCTACTTTATGGGGTGGTTGTGATTATTCGGTGAAATAATCATGTAAAGTGCTCAGCTCTGCACCTGATACCTAGTAAGTGCTCCGTGAATGTTAGCTGTTATTGCTGATGTTGTTGTCACTTATCGAATGCCCATGTCCCAGAGGCTGAGCTAGATACTTTATATGCACTACCTCTGATCCTCACAATTGCCTTGCAAGATAGGATTTATCATCTCTGTTTTATGGTGAAGAAAGTATGAGGCTCAGAGAAGTGACTTATAAACACATACTACGTCGATGCCCACAGGAGGGAGGGGCAGCTTCGCGAGTGGGAGGTAGGCACACCTGAAGGCTTCGATGAGTCGCTCCACTTTCTGGGCCTCACCCTGAACCCGGATATGGGACTGGAACTTCCGGAGCGCATCATCCAGATCCATGGAGGAGAAGTCCATCTCATCCACCACACAGCTAAGGAGCAAAGAAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAACCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAG
Task1_train_29952
An alteration has been detected in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Intellectual disability, X-linked 1
AAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAG
AAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCTGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAG
Task1_train_29953
A variant was discovered in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Intellectual disability, X-linked 1
GGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACC
GGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGGGGCAGAAGGGTACAGGGGCAGGAAGGTCTATTCATCCTGTTTTGAAAAGCTTATCTGAGCTAAAGGGACAGGCTGCCCCCTTCCTCCCTCTTGCTGTCCTTTTCCAGGAATCCCTGGCCCAGCCTGCCCCATCCTGGGGTCCTCACTCCAACACGTCTCTGTTGAACTGCTTCTGCCGGTTCCCTAGGAATTCCCCTATCATCTGCCGGCTGAGGCCTTTCCGCTCCAGGATGAAGTGAGCCACTCCCACCGGTGTGTCTGACAGGAAGCCCCGCTCGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTTGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACC
Task1_train_29954
Here is a genetic alteration in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Intellectual disability, X-linked 1
AATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTTAGCAGCTACTACGTGCTAGGTGTTTTCATATATATTACCTGTATAGTTGCACCGAGTCTTCCAAACAGCTCTAAAAGGGTTTTCTCTCCATTTTATTTTCTCTCCATTTTATTGATCATGTTTCAGTGTGGTTAAACAGTTTGCCAAGGCCACACAGTTGGGAAATGGCAGAACTGGGATTCACACCTGGGCAAGTATGTTGACACACCCCAAGCCTACAACGATCACCCACTACCTTTACTGCATTACAATTCCACCCTCCACACTTTTGCTGATGCAACGCCTATGTAAGCAACACCCTCCCAAGTATTTCTAACTTGCTAAATCTTTTCTGTCTGGTAAGGTCCAGCTCCAATGCTGTTTTCTCAAACAGGTTTTCTGTGGTTCTCCCAGAAGAAAGTTTCCTCCCCCTCCTCTGGGTTCCCAAGGTACTATACATTATACTATAGCCTTTCTCATGGCTCAGAGCACACTCTACTTCAGGAGACAGTAATGCACACATATGTCTGCCATTTCCCACTGCCCTGGGATCCTTGAGGACAAGGACCAATTCCAGGTCCTTAGCCTCAGTCTCCTCCTCTATTAAATGGGAATAATAATCCCTGTCTCACAGGTCTGCTGTGAGGCATATACAGCACTGGCACACAGTAGGAGCTCACTACCTGTGAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCT
AATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTTAGCAGCTACTACGTGCTAGGTGTTTTCATATATATTACCTGTATAGTTGCACCGAGTCTTCCAAACAGCTCTAAAAGGGTTTTCTCTCCATTTTATTTTCTCTCCATTTTATTGATCATGTTTCAGTGTGGTTAAACAGTTTGCCAAGGCCACACAGTTGGGAAATGGCAGAACTGGGATTCACACCTGGGCAAGTATGTTGACACACCCCAAGCCTACAACGATCACCCACTACCTTTACTGCATTACAATTCCACCCTCCACACTTTTGCTGATGCAACGCCTATGTAAGCAACACCCTCCCAAGTATTTCTAACTTGCTAAATCTTTTCTGTCTGGTAAGGTCCAGCTCCAATGCTGTTTTCTCAAACAGGTTTTCTGTGGTTCTCCCAGAAGAAAGTTTCCTCCCCCTCCTCTGGGTTCCCAAGGTACTATACATTATACTATAGCCTTTCTCATGGCTCAGAGCACACTCTACTTCAGGAGACAGTAATGCACACATATGTCTGCCATTTCCCACTGCCCTGGGATCCTTGAGGACAAGGACCAATTCCAGGTCCTTAGCCTCAGTCTCCTCCTCTATTAAATGGGAATAATAATCCCTGTCTCACAGGTCTGCTGTGAGGCATATACAGCACTGGCACACAGTAGGAGCTCACTACCTGTGAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCAGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCT
Task1_train_29955
Here is a variant affecting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Intellectual disability, X-linked 1
GATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTTAGCAGCTACTACGTGCTAGGTGTTTTCATATATATTACCTGTATAGTTGCACCGAGTCTTCCAAACAGCTCTAAAAGGGTTTTCTCTCCATTTTATTTTCTCTCCATTTTATTGATCATGTTTCAGTGTGGTTAAACAGTTTGCCAAGGCCACACAGTTGGGAAATGGCAGAACTGGGATTCACACCTGGGCAAGTATGTTGACACACCCCAAGCCTACAACGATCACCCACTACCTTTACTGCATTACAATTCCACCCTCCACACTTTTGCTGATGCAACGCCTATGTAAGCAACACCCTCCCAAGTATTTCTAACTTGCTAAATCTTTTCTGTCTGGTAAGGTCCAGCTCCAATGCTGTTTTCTCAAACAGGTTTTCTGTGGTTCTCCCAGAAGAAAGTTTCCTCCCCCTCCTCTGGGTTCCCAAGGTACTATACATTATACTATAGCCTTTCTCATGGCTCAGAGCACACTCTACTTCAGGAGACAGTAATGCACACATATGTCTGCCATTTCCCACTGCCCTGGGATCCTTGAGGACAAGGACCAATTCCAGGTCCTTAGCCTCAGTCTCCTCCTCTATTAAATGGGAATAATAATCCCTGTCTCACAGGTCTGCTGTGAGGCATATACAGCACTGGCACACAGTAGGAGCTCACTACCTGTGAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCA
GATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTTAGCAGCTACTACGTGCTAGGTGTTTTCATATATATTACCTGTATAGTTGCACCGAGTCTTCCAAACAGCTCTAAAAGGGTTTTCTCTCCATTTTATTTTCTCTCCATTTTATTGATCATGTTTCAGTGTGGTTAAACAGTTTGCCAAGGCCACACAGTTGGGAAATGGCAGAACTGGGATTCACACCTGGGCAAGTATGTTGACACACCCCAAGCCTACAACGATCACCCACTACCTTTACTGCATTACAATTCCACCCTCCACACTTTTGCTGATGCAACGCCTATGTAAGCAACACCCTCCCAAGTATTTCTAACTTGCTAAATCTTTTCTGTCTGGTAAGGTCCAGCTCCAATGCTGTTTTCTCAAACAGGTTTTCTGTGGTTCTCCCAGAAGAAAGTTTCCTCCCCCTCCTCTGGGTTCCCAAGGTACTATACATTATACTATAGCCTTTCTCATGGCTCAGAGCACACTCTACTTCAGGAGACAGTAATGCACACATATGTCTGCCATTTCCCACTGCCCTGGGATCCTTGAGGACAAGGACCAATTCCAGGTCCTTAGCCTCAGTCTCCTCCTCTATTAAATGGGAATAATAATCCCTGTCTCACAGGTCTGCTGTGAGGCATATACAGCACTGGCACACAGTAGGAGCTCACTACCTGTGAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAACCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCA
Task1_train_29956
This sequence change occurs on Chromosome X, altering SMC1A (structural maintenance of chromosomes 1A). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
CCCAGTCAGCAGGGCATTCAGCACCTTCCAGATTTGGAGGCTTCTTCTGTCCCTAATAGCTGGGATCAGAAGCTCTCAGGGGTCCAGGCATGAGGGTTATATTCTGAGGGGTCGGCACCTAGTGGGCTCCACGAAGGGATAAGGCCTCCAGTGAGGAGCTTGACATCATTAAATCCTATGAGGTAGGTAATATTGTTAGCCCCATTTTACAGATGAGGAAACTGAGGCACAGAAGGTCAAATGACTTGCCCAAGGTCAAACAACTAGTAAGTGATAAAAAGTGGGACCAGAACCCATAACTGTCTGTCCCCAGAGCTCATGCTCCACTCCTAGTGCCTGACCAAATCCTACCAATTTGTCAAGGTCTAGCTTAAATGTGACCTCCAGGAAGCCTAGAGGGGATCACCCACTTCTCAAATTCAAAGTACATATGACATTCAGCTAACTATAGTCATTCATGAACCCACTGTATCTCCTTACTAGGAGGGTAGAGATCATGTCTGATTCAACTCTGTATTCCAAGCACAGAGCCTGACAAATAGAGGGTGTTCGGTATGTGTCTGATGAATACATAAATGAATGAATACACAAATGAGTGAATGAAGGCAGTTTCAGGTAACTGCCTAAGACTCCTATGAGGTCCTGAGTACCTTTGCCCAGCTCAGGGGTGCTGTCATCCTAAGCTCTCTTGGAATCAAATTCAGCCTAGGCTCCTTCTAAAACAGGTCTCCAATATCCTTTATTATTTTGCAAACATACTCACATGCACACATGCGGATACATACATACACACATACATACCCACACACACAGTGGGCAAGAGGCCCAAGGGGCCCACGATTATGGGTGATGAGGGGGAGGAAGGGGGTGTGTGTGATGAACAGATGGCCCTGTTCAGCTCAGCACCTCCTTTCAGAGGCCAGAATACTCCCTGTCGTTCAGGAATTTTTGCTCCAGACCTAACATCACCTCTGTTCCTCTTCATGCTTGATTAGCAGTGCCTAAATCCCATGACTACACCAAAAAGGGCCAGGAGGTAGGGGGAAGGTTGGGAGTCAAATATCCAGAGATTGGGAGAGGGACAGCTTAGGGATCCAGACAGGGCGGGAGGGCAAAAATACTGCTACTGCTCATTGGGGTTGGGGTTGGCATCTGGGTACTTGGTGAGGTCGAAGGTCAGGACTTTGCTGATCACACAGTCCCCTTGCTGAAGGAGGAGGGAGAAAAAGAAAAATAAAATTGTAAGGAGAGAATTAAGAGGGGTCTAGTGCCCCAGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCC
CCCAGTCAGCAGGGCATTCAGCACCTTCCAGATTTGGAGGCTTCTTCTGTCCCTAATAGCTGGGATCAGAAGCTCTCAGGGGTCCAGGCATGAGGGTTATATTCTGAGGGGTCGGCACCTAGTGGGCTCCACGAAGGGATAAGGCCTCCAGTGAGGAGCTTGACATCATTAAATCCTATGAGGTAGGTAATATTGTTAGCCCCATTTTACAGATGAGGAAACTGAGGCACAGAAGGTCAAATGACTTGCCCAAGGTCAAACAACTAGTAAGTGATAAAAAGTGGGACCAGAACCCATAACTGTCTGTCCCCAGAGCTCATGCTCCACTCCTAGTGCCTGACCAAATCCTACCAATTTGTCAAGGTCTAGCTTAAATGTGACCTCCAGGAAGCCTAGAGGGGATCACCCACTTCTCAAATTCAAAGTACATATGACATTCAGCTAACTATAGTCATTCATGAACCCACTGTATCTCCTTACTAGGAGGGTAGAGATCATGTCTGATTCAACTCTGTATTCCAAGCACAGAGCCTGACAAATAGAGGGTGTTCGGTATGTGTCTGATGAATACATAAATGAATGAATACACAAATGAGTGAATGAAGGCAGTTTCAGGTAACTGCCTAAGACTCCTATGAGGTCCTGAGTACCTTTGCCCAGCTCAGGGGTGCTGTCATCCTAAGCTCTCTTGGAATCAAATTCAGCCTAGGCTCCTTCTAAAACAGGTCTCCAATATCCTTTATTATTTTGCAAACATACTCACATGCACACATGCGGATACATACATACACACATACATACCCACACACACAGTGGGCAAGAGGCCCAAGGGGCCCACGATTATGGGTGATGAGGGGGAGGAAGGGGGTGTGTGTGATGAACAGATGGCCCTGTTCAGCTCAGCACCTCCTTTCAGAGGCCAGAATACTCCCTGTCGTTCAGGAATTTTTGCTCCAGACCTAACATCACCTCTGTTCCTCTTCATGCTTGATTAGCAGTGCCTAAATCCCATGACTACACCAAAAAGGGCCAGGAGGTAGGGGGAAGGTTGGGAGTCAAATATCCAGAGATTGGGAGAGGGACAGCTTAGGGATCCAGACAGGGCGGGAGGGCAAAAATACTGCTACTGCTCATTGGGGTTGGGGTTGGCATCTGGGTACTTGGTGAGGTCGAAGGTCAGGACTTTGCTGATCACACAGTCCCCTTGCTGAAGGAGGAGGGAGAAAAAGAAAAATAAAATTGTAAGGAGAGAATTAAGAGGGGTCTAGTGCCCCAGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGGTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCC
Task1_train_29957
Here is a variant affecting SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCC
AGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCAGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCC
Task1_train_29958
A change on Chromosome X affects gene SMC1A (structural maintenance of chromosomes 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
CAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTC
CAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGTGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTC
Task1_train_29959
A variant was discovered on Chromosome X, affecting SMC1A (structural maintenance of chromosomes 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACGGACACGCACAACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGAGTTTCACCATGTTGCCCAGGTTGGCCTCAAATTCCTGAGCTCAACTGATCCACCCATCTCAGCCTCCCTAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCGGCCAGGAACAGACTTCTATGCAGTTGGGAGCATCACAAAAAAATAGCCAGGGGAGGTTGCTCATGGTCCGTTCATCAAACTG
CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCACTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACGGACACGCACAACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGAGTTTCACCATGTTGCCCAGGTTGGCCTCAAATTCCTGAGCTCAACTGATCCACCCATCTCAGCCTCCCTAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCGGCCAGGAACAGACTTCTATGCAGTTGGGAGCATCACAAAAAAATAGCCAGGGGAGGTTGCTCATGGTCCGTTCATCAAACTG
Task1_train_29960
The gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Inborn genetic diseases
CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCGCTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACGGACACGCACAACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGAGTTTCACCATGTTGCCCAGGTTGGCCTCAAATTCCTGAGCTCAACTGATCCACCCATCTCAGCCTCCCTAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCGGCCAGGAACAGACTTCTATGCAGTTGGGAGCATCACAAAAAAATAGCCAGGGGAGGTTGCTCATGGTCCGTTCATCAAACTG
CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTACTGACTACCACAGCATGGATGACTCTGGGCCCAGCCTCCCAGGCACAGAGAGCAGGCAGCAGGAACGGCTAGGGCACGCTCAGGAGTTGCTCCCTGAAACCCAACCCCGACCTGGGGGCATCCCTCCCAGGCCCCACTTTCTTTGCACCCACCTTGCCAATGTTGGTGTTATCCAAGGCAGCATCAATCTCATCCAGGACGAAGAAGGGGGCTGGCTTGTAGCTGGGAGGGAACCAGTAGGTGAGCTGACACTGAGGCGGGGAGGGGGTGGCAAGGCGGGGTGGGACAGCCCCAGGGCCCATCAAACAGGCCAGCTTCCCACTCCACTTCTTCAGAAACTAAAAAACCCAGGTCTCAAAGTTGCCTGAGCCCCTGAAAGCCAAGACATCAACAAAGCCCTCCCCTCTGCAATCAGCCCTGTGTTCCAGGTTCCTACAGAACCACAAGAAGACATGGTCCCCTCAGGAGCTTCCAGGCTGGCTGGGGAGCTAAAGCTGTCCAAGGTTCTAGTTGTAATGACCGAGCTACCTAGAGGTCCACCCCATTCCAACACATGCCATCACAGCATGCTTTGTCATGCCTCCTTGCCTCTGCACATGCTGCACCCTCAGCCTAGAATGCCTGCTGGTCTACCTGGCACACTTCTACTCATCCTTTACATCTCCTGCTCAAGTGGCACCTGTCATTAAAAGTCTTCCCTGGCCTACCCATACCCTCCCCACAGACTGGGTTAAGTGTACCTCCTCTGTGTATCCATCGCACCCATGCTCACCCGGTTACAACACTTAGCACATGTCTGTTTATGCATCTGGCTTCTACTAGACTGTGAGCTCCTCGAGGCCAGAGACCCTGTCTGATACATCTGTGTCCCTAATCCCTCCGCAGGGTCTGGTACAGAGCAGCACTCAAGAAATTGATGCTGTACAATCAAGCAATATAAGCTGCGGGAGTCAGACTCAAGTACTACTGGCATTCAGGAGGGGAAGGTCAGGGTATGCCACAGTGATCAAGGAGGGCTTCCTAAAGGGGAGGAGAATGAGGAAGGGTGAAGGGGTGAAAGGTGATGATCAAGCTAGATTTACATGGAAAGGGATTATTAGCCAGCAACCTCGTGAGCAAAAGCCTGGAGGCGGAACTAAATACATGCAGAGGCCGGTGAGGACATGCTGAGCAGATGAGGGTGGATGGGGAAGACAGGTCCAGAAAAACCAAAGCCAGATATGCTGCAGTAGATAGTGAAACAGGGATGCAATCCAGATTCCACCAAACCATCACCTTCGCAGATCTCTGTGTATCCTTGGGCCCCAGAGCCTCTGGTGGCCTCAGTTCAGTCTCTTCGTCAACTGCCCTAGGGGATCAGCCTTACCTGTGGATGGCAAAGAGCAGGGCCAGAGCTGCCACTGTCTTCTCCCCGCCTGACAAGTTGTCCATAGGCCGGAAGCGTTTCCCAGGAGCCACACAGTTGTAGTTGATGCCATCCAAGTAGGGCTCTTCAGGGTTCTCAGGGCCCAGGAATGCCTAGGGGAAGGCAGATGGGTCAGGATCTGTATCTGAGACTGGATGGAGATAGGGACAGGAAGCCTAGAGGGAAGGACAACTGAGGATGGTAGCAGCTGGTTGGGTAAGGGGCTCCAGCCTACCTGGGCACTGCTATTGCGGGACAGGGCCTTATAGATCTCATCAATGTTGGTAGCCACAGATTCAAAACAAGCATTGAAGCGGTCAAAGCACTCCTTCTTGATCTGTTCGAATGCCTGCTTGGCCTTCTTTGCTCGCTTTCGGGCTGCTTCAAACTCTGCCAGAAAGAAAGACAGGAGACCCCTCAGTGCCCTGGCAAGAAGGACCTGCAAATGACAATCCAGAGCAGGAACATCCCACTGAGAGAGAGGAATGCCTGAGGAGGGTCCCAGAAGGATCTGTATCCAGTGGACTGGCCACTGGATACAATGCAGAGCAAGAAACAGGGGCCTGGAGCCACACAAATATGGATTCCTCCCTGTGTTCTACCAGCAACCAGCTGTGTGACCTTGAACAGGTCATTTACTCTCCGGGAACCTCAGCAATTTTCCGTTCTATAAAGCAGGTGTAATAACCCCTACTGTTTAGGGCTCCTGAGAGTTTTAAGTAAGAAAACATGTCAGAACAGGAACTGCTGTGATGTATAGCAGGCCCGTGGCATACCCTTAGCCTCTTGTCCTCATCGTAGGCCCAAGTAGAAGGGTAAATCTTACCATCTGAGGTCTCCTGGAACTTGTCTCGGACACTTTCCAGCTTTTCCATGGCCTTCATGTTGGGGGCGGCAATACGCTGAAGCACACTCTGCTGCTCATTCAGCTTCTGCTGCAGTGTGTTCATCTCTTGCTTGATCTCTTCCTCAGCCTGGGCATCCTGTAAGCCCCAGGCCCAGCAATGTCAAGAAGGGCCTGGCCCCTGTGCCAAGGCCCCCACCGAAAGATGACTGACTGAGTGTGGCCTGGGCGCCTGCTCCTATACGGAGGGCAGGTTCTTCTTCTCCAGCTCGGTTCCTTCCACCAGATCCTACCCATAGTAACCATTCCCACCATCTCTGGAAATTATAGGCTGAGGCTGCTTTCTAATCTCTAGCTGCTTTCTAATCTCTAGCCCTTCCCCCAGGCCCTGCCAACCGCTTTGTCTCTCAGGAGGAGCAGCTGGTGGTGCCCCTCTCTGGCTCTCAGCCCAGGCCATGAGCCAGTACCAACCCAGGGTGACCTGGAGGCTCCCACACTGGCCGCTTTGGACTCCACTTACAGCTCCACAATAAGTAAGGCAATTCACGTTTTCTGCTTAGATCACTACATTTGAGCAAATTCCATTAGAGTTTAGTTTTAGTTCTTATGGATATTGCAATGCATGTCTGGGCTTGTGCCTTTCTGCCACTTTCAGTCAATAAATATTTATTGAATGCCTACCAAGTGCCAGACACTGGGGCCATCCTGTCCTGTGAGCCCTGGTTTCTGTGCTCACAGAGCTCAGGGGTCTAACAGAGGAATGCACATAAGTAAACAACCAGAATACTGTAGGATGAATGTGAAAACAATGATAAGCAGGCAGTGTTGACTTAGCACACAAGAAAGACACCTAACTCAGACTCAGGAGGACTCAGACTCCTAACTCAGAGATCAGGAGATTGATAGTTCTTGAGTGGTGAATGTTAGTACTATTATATTTAGTGAGCCTAGGGTATTTTGGGTATAAATAAGTATAATAAGTAGAGGGAGGGATCCCACTAGTGTATAGAATATGTGCCTGCATTGAGGTGTTCTGGATGGTTACCTCATCGGGTGATAAAAATTAAGGTAGGCTTCCAGGAATATGTTTAAGCTAAGGACTACAGGATGAACAAGTGAAGACAGAGAAAACGAATAGACCTTTTTAGACTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTATTACCCAAGCTGGAGTGCAATGGCATGATCTCTGGTCATTGCAAGCTCCACTTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACGGACACGCACAACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGAGTTTCACCATGTTGCCCAGGTTGGCCTCAAATTCCTGAGCTCAACTGATCCACCCATCTCAGCCTCCCTAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCGGCCAGGAACAGACTTCTATGCAGTTGGGAGCATCACAAAAAAATAGCCAGGGGAGGTTGCTCATGGTCCGTTCATCAAACTG
Task1_train_29961
This is a variant in SMC1A (structural maintenance of chromosomes 1A), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Developmental and epileptic encephalopathy, 85, with or without midline brain defects
AATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTGACTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACGAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACATTCTAGCACATTTTCTTTCAGCATTTGATTTACAGACAGTTTTACATAGTTGAGACTAGACTGTAATTAAAACTCTGTATTCTGACTTAATGTTATATTTGAGCATTTTTTTCTACATCAAAACTTTGTCATGTGCAGTATGGTAACATTTGTTGTTGTTGTTTTTTTTTTAAACCCACACAAACAATACTGTGCATTTTCTATGAATACACATATGTAAATGTACAAGTATTTAAGTAAATCCTTAAAGGGTCTGGAAGAATCACCTCTGGCAAGACGAAGGGGACTAGGATGAAGAGTGGTCAGCCAAAGGGGATTATAGCCTTATGTATAATGTTCTGATTTTTACAAAGGAAAATTTTTGTTTTCATTTTGATCTTAAGTCACATAAAGGGGGCCTGGTGGAGTGGCTTACACTTGTGATTCCAGCACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAATAAGGCAAAACCCCGTCTCTACAAAGAATACAAAAATTAGCTGGGTGTGGTGGCACACGCCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCGGGAGGATCATTTGAGCCTGGGAGGCGGAGGTTGCAGTCAGCTGAGATCGTGCCTCTGCACTCTAAACAGGGCGACAGGGCGAGACCTTGTCTCAAAAAAAAAAATAATAATCACATAAAGGGGACATATCTGCAACTTACTCCCAAATGGCTCATAAAAAATAATAAGCATATATATAGAGAGAGAATGCAAAAGATAATGCGGCAACATGTTGATGACCGATGAATCTTGGTGATGGGTAGATAGGAGTTCTTTGTACTATTCCTTGCAATTTTTTGCAAAGTTGAAAATTATTTCAAAATAAAAAGTAAAAAAATTACATATATGTAATATCCCAAATCATCTAGGTATCTAACTTGTCTTGCCTCAGGATTTTACTGCCCAAGCTACAACTGCATTTAAGATTTCAGACACCAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGCGAACATTGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCAGGCGTGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCAGAGGCAGGAGTTATCGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGTACTATTGCACTCTAGCCTAGGAAACAAGATCAAAACTGAGTCTCAAAAAAAAAAAAAAAAAAGATTTCAGACACTAAAGAGGACTACTTTAATCATCAGGGGTTAATGATGAAAACACAGAAACAAGCGACAAACATAGGCAGACATAAGTCAAACAATAAGTTCAAACCAAGAGAAGGCCAAATCACCTCAGGAGGGAATGCTGTAAGGAACAAAGGCTTCATAGTAGTTTAAAGAGAAAGGGTGTGAGAAAATTGAGTCATCACACAATACATGGTGGCACAGGCATGCTAAACTCAAAAGAACTGAGCTGTAGCAGTCAGTAGCACAGTCACACTGTGAAGTGACTAGGTTTCAGCAAAACATCATCATTTGTTGCACTGAATTTACATGGTCAATCTAAAT
AATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTGACTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACCAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACATTCTAGCACATTTTCTTTCAGCATTTGATTTACAGACAGTTTTACATAGTTGAGACTAGACTGTAATTAAAACTCTGTATTCTGACTTAATGTTATATTTGAGCATTTTTTTCTACATCAAAACTTTGTCATGTGCAGTATGGTAACATTTGTTGTTGTTGTTTTTTTTTTAAACCCACACAAACAATACTGTGCATTTTCTATGAATACACATATGTAAATGTACAAGTATTTAAGTAAATCCTTAAAGGGTCTGGAAGAATCACCTCTGGCAAGACGAAGGGGACTAGGATGAAGAGTGGTCAGCCAAAGGGGATTATAGCCTTATGTATAATGTTCTGATTTTTACAAAGGAAAATTTTTGTTTTCATTTTGATCTTAAGTCACATAAAGGGGGCCTGGTGGAGTGGCTTACACTTGTGATTCCAGCACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAATAAGGCAAAACCCCGTCTCTACAAAGAATACAAAAATTAGCTGGGTGTGGTGGCACACGCCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCGGGAGGATCATTTGAGCCTGGGAGGCGGAGGTTGCAGTCAGCTGAGATCGTGCCTCTGCACTCTAAACAGGGCGACAGGGCGAGACCTTGTCTCAAAAAAAAAAATAATAATCACATAAAGGGGACATATCTGCAACTTACTCCCAAATGGCTCATAAAAAATAATAAGCATATATATAGAGAGAGAATGCAAAAGATAATGCGGCAACATGTTGATGACCGATGAATCTTGGTGATGGGTAGATAGGAGTTCTTTGTACTATTCCTTGCAATTTTTTGCAAAGTTGAAAATTATTTCAAAATAAAAAGTAAAAAAATTACATATATGTAATATCCCAAATCATCTAGGTATCTAACTTGTCTTGCCTCAGGATTTTACTGCCCAAGCTACAACTGCATTTAAGATTTCAGACACCAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGCGAACATTGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCAGGCGTGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCAGAGGCAGGAGTTATCGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGTACTATTGCACTCTAGCCTAGGAAACAAGATCAAAACTGAGTCTCAAAAAAAAAAAAAAAAAAGATTTCAGACACTAAAGAGGACTACTTTAATCATCAGGGGTTAATGATGAAAACACAGAAACAAGCGACAAACATAGGCAGACATAAGTCAAACAATAAGTTCAAACCAAGAGAAGGCCAAATCACCTCAGGAGGGAATGCTGTAAGGAACAAAGGCTTCATAGTAGTTTAAAGAGAAAGGGTGTGAGAAAATTGAGTCATCACACAATACATGGTGGCACAGGCATGCTAAACTCAAAAGAACTGAGCTGTAGCAGTCAGTAGCACAGTCACACTGTGAAGTGACTAGGTTTCAGCAAAACATCATCATTTGTTGCACTGAATTTACATGGTCAATCTAAAT
Task1_train_29962
Gene SMC1A (structural maintenance of chromosomes 1A), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
CTTATGCTCCCCCAGTAATGGCCATCTACATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTA
CTTATGCTCCCCCAGTAATGGCCATCTACATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCTGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTA
Task1_train_29963
Located on Chromosome X, this mutation impacts SMC1A (structural maintenance of chromosomes 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
CATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTC
CATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACGAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTC
Task1_train_29964
Mutation context: Chromosome X, Gene SMC1A (structural maintenance of chromosomes 1A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Inborn genetic diseases
TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACA
TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAGCACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACA
Task1_train_29965
A variant on Chromosome X in gene SMC1A (structural maintenance of chromosomes 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACA
TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTTTTTCATTGCATTGGGTATCATAAGTACTTAGCCACATTTCCATTGGGTTTCTTGTCATTGTTTTTTATTTTTCCTGTTGTTGATTTGCAGTTCCTTGAAAATTTCTTCAGTATTTTGTATCTACCTTAATTACACCATTGATCACACTGTCCTCAAATTGATGTTTCCCCCAGTACTCTATATGTTTCCTGAGGAAAGAAATACAGTCTGATTCAATTCTATATCCCTTGAGACTGGCTTGAAGTAGGACAGCAATGAATATTTACTGTATGGGCAAAGGGCTAAACTGCTAACTGAAGCCCAGGGTACAAGGGATGACCTCCTTCAGCAAAGACTGTGTTGTGTTCATCTGTCTTACCTCCATCTCCCTTGTCCCCCTTCCAATACCTAGCACAAGACAACCTGGCACAAGGTAGGTACTCAACAAAGGTTTGTTGAATGAATGAATCAACTAAAGTGAGGAAAAATGAGAAGATTATTTTCTTCTGACTATTGTTTCAACCAAGAATTTCATCTCCCGCCTCCCTCCACCTCACGTTGCCCATTATGATAATAACAACAAAAGCTACTATTTCTTGCTCTTAGTAGATGATATGTAAGCTGCTAAATACCTTTTAAAAAGGTTAAAAAAAAAAAAAAGCCAGGCGGGGGTTGGGGCCAGGCGTGGTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAATAAGAAAAATTAGCCGGGCATGGTGGCGTGCACTTATAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCATGAACACGGGAGCCCGGAAGGTGGAGAATGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCCGGCAATATGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATCAAGACGAGCCTGGGCAATGTGGCAAAACCCCATCTCTACAATAACAACAACAACAAAAAACAAAAAAAGAAAAATTAGCCGGGCGTGGTGGCAAACATCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCTGGGAAGGTCAAGATTGACACTGCACTCCAGTCTCGGAAACAGAGTGAGATCCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAAAACAGGTAATCTTAAAAAAAAAAAATTATTTCACCTAATCCTCCCAACAATGCCATGAGATAGGTATCATTATACCATTTTGCAGATATTGCAGCTTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAGCACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACA
Task1_train_29966
A variant found in Chromosome X affects SMC1A (structural maintenance of chromosomes 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
TTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACACAAACAGGGAGTACTAGAGGAGGGGCCCTTGAACACTGGCCTGACCCAATCCCCAACAAGCCTCACCTCCAGGTAGTCAAGAGGCAAGAAGGTCTCAGGCTCCCCACGCTGCTCCTTGATATACTGAATACAGTCCCGGCCTGTCTTCTCCGAGTCCACAATAATGGCATCCATGTTCTTGCCCAAAACCTTGGTTACAGCAATCTGATACTTCTTTTGTGTGGGCTGGCATAGGTCAATGAGGCGGCCGTACTGAGTAAAGTAGGAAGGGAAAACTGAAGTATGAAGCTTTTGGAAGCTGGCTCAGGAATCCTAATTCCCAGTATGGAAAGGGGGACAGACTAGAATCTATATCAGGAAGTGAATGCAACTGTATTGCCTAGTGGTTAAGATAACCCAATACCAAGCATGGTAGTGTGTGTTTGTAATCCTAGCTACTTGGGAGGTTGCAATGGGAGGACAGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAATGAGACCCTGTCTCAAAACAAACAAAAAAGACAGCCCACTAGTTCTGTACCCATGCAACCCTACCCTATCTGAATGAGACTGTATGGACTGAGGAGGAGGCAATTGCAGACTAGCTTGCTGTGTGCACTCCAGATCAGCACAGTGGCCAATCCTAACGTCCCTTTGAAAGGTGGAAAAGTTTGGGTAAGAGAAGGGAGGTAAAGAAATGAATAAATGAGTTATGTAATGAGGGAAACTCAGTATTACATTAACACCTCAAAAGAGGTTCAGAGCAAGAGATGATATTGTCTCTTAGCACAATTATCCCAGATGCCTGAAAGTATGAAGCTATGTTTGCCGAGAACACTCCTGGTTTTGGAACCTAACAAGATTGAATAGAAGCCTGCAAACCTGAATGGCCTCACCCTAGGAGACATTTTTACATGACATGATCATGGACTAGACTAATTATTAATTAATGACTCAGTGGGATTCTAGTAATGTGCCAGTATCTTTCTACTCTTTTTTGGAGACGGAGTCTCACTCTGTTGCCCACGCTGAAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACCCCTGACCTCCGATGATCTGCCCGCCTCGGCCTCCCAAAGTGCGAGGATTACAGGCGTGAGCTACCGCTCCCAGCATCTTTCTATTTATTACATGATTGTTCTGATGTAAGGGATCTGTGTTTGAAGATCAAAGTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGAT
TTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCCCGGATGTTGCGCACACCAATCTCCCGACAAAACTCTTCAAACACCTCATCCTCTACCTGAGAAGAGAAGCCAGGGAGGGCATCGGCCCTTTTAGTCTGTCCTGCTTCCAGTCCCAGTCCTGCCCTGACACACACGCTGGCATGGCCCACACCCTACCAACCTGGTTCATCTTCTCCTTCAAGTCTTTCATTTCCCTCTCTCGGCTCTGAATGATCCTCTTGATATCATTAATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAAAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACACAAACAGGGAGTACTAGAGGAGGGGCCCTTGAACACTGGCCTGACCCAATCCCCAACAAGCCTCACCTCCAGGTAGTCAAGAGGCAAGAAGGTCTCAGGCTCCCCACGCTGCTCCTTGATATACTGAATACAGTCCCGGCCTGTCTTCTCCGAGTCCACAATAATGGCATCCATGTTCTTGCCCAAAACCTTGGTTACAGCAATCTGATACTTCTTTTGTGTGGGCTGGCATAGGTCAATGAGGCGGCCGTACTGAGTAAAGTAGGAAGGGAAAACTGAAGTATGAAGCTTTTGGAAGCTGGCTCAGGAATCCTAATTCCCAGTATGGAAAGGGGGACAGACTAGAATCTATATCAGGAAGTGAATGCAACTGTATTGCCTAGTGGTTAAGATAACCCAATACCAAGCATGGTAGTGTGTGTTTGTAATCCTAGCTACTTGGGAGGTTGCAATGGGAGGACAGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAATGAGACCCTGTCTCAAAACAAACAAAAAAGACAGCCCACTAGTTCTGTACCCATGCAACCCTACCCTATCTGAATGAGACTGTATGGACTGAGGAGGAGGCAATTGCAGACTAGCTTGCTGTGTGCACTCCAGATCAGCACAGTGGCCAATCCTAACGTCCCTTTGAAAGGTGGAAAAGTTTGGGTAAGAGAAGGGAGGTAAAGAAATGAATAAATGAGTTATGTAATGAGGGAAACTCAGTATTACATTAACACCTCAAAAGAGGTTCAGAGCAAGAGATGATATTGTCTCTTAGCACAATTATCCCAGATGCCTGAAAGTATGAAGCTATGTTTGCCGAGAACACTCCTGGTTTTGGAACCTAACAAGATTGAATAGAAGCCTGCAAACCTGAATGGCCTCACCCTAGGAGACATTTTTACATGACATGATCATGGACTAGACTAATTATTAATTAATGACTCAGTGGGATTCTAGTAATGTGCCAGTATCTTTCTACTCTTTTTTGGAGACGGAGTCTCACTCTGTTGCCCACGCTGAAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACCCCTGACCTCCGATGATCTGCCCGCCTCGGCCTCCCAAAGTGCGAGGATTACAGGCGTGAGCTACCGCTCCCAGCATCTTTCTATTTATTACATGATTGTTCTGATGTAAGGGATCTGTGTTTGAAGATCAAAGTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGAT
Task1_train_29967
A mutation found in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
ATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACACAAACAGGGAGTACTAGAGGAGGGGCCCTTGAACACTGGCCTGACCCAATCCCCAACAAGCCTCACCTCCAGGTAGTCAAGAGGCAAGAAGGTCTCAGGCTCCCCACGCTGCTCCTTGATATACTGAATACAGTCCCGGCCTGTCTTCTCCGAGTCCACAATAATGGCATCCATGTTCTTGCCCAAAACCTTGGTTACAGCAATCTGATACTTCTTTTGTGTGGGCTGGCATAGGTCAATGAGGCGGCCGTACTGAGTAAAGTAGGAAGGGAAAACTGAAGTATGAAGCTTTTGGAAGCTGGCTCAGGAATCCTAATTCCCAGTATGGAAAGGGGGACAGACTAGAATCTATATCAGGAAGTGAATGCAACTGTATTGCCTAGTGGTTAAGATAACCCAATACCAAGCATGGTAGTGTGTGTTTGTAATCCTAGCTACTTGGGAGGTTGCAATGGGAGGACAGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAATGAGACCCTGTCTCAAAACAAACAAAAAAGACAGCCCACTAGTTCTGTACCCATGCAACCCTACCCTATCTGAATGAGACTGTATGGACTGAGGAGGAGGCAATTGCAGACTAGCTTGCTGTGTGCACTCCAGATCAGCACAGTGGCCAATCCTAACGTCCCTTTGAAAGGTGGAAAAGTTTGGGTAAGAGAAGGGAGGTAAAGAAATGAATAAATGAGTTATGTAATGAGGGAAACTCAGTATTACATTAACACCTCAAAAGAGGTTCAGAGCAAGAGATGATATTGTCTCTTAGCACAATTATCCCAGATGCCTGAAAGTATGAAGCTATGTTTGCCGAGAACACTCCTGGTTTTGGAACCTAACAAGATTGAATAGAAGCCTGCAAACCTGAATGGCCTCACCCTAGGAGACATTTTTACATGACATGATCATGGACTAGACTAATTATTAATTAATGACTCAGTGGGATTCTAGTAATGTGCCAGTATCTTTCTACTCTTTTTTGGAGACGGAGTCTCACTCTGTTGCCCACGCTGAAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACCCCTGACCTCCGATGATCTGCCCGCCTCGGCCTCCCAAAGTGCGAGGATTACAGGCGTGAGCTACCGCTCCCAGCATCTTTCTATTTATTACATGATTGTTCTGATGTAAGGGATCTGTGTTTGAAGATCAAAGTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTA
ATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCCTGGGGGCAGAGTTGTTTCAGAATTCAGTTTAGATTTTTTGAGTTTAGAAAAAGATATATAAATACACACACTACATATAAAACCTCTAGGGCGGTCTGGGGAAGTAGTCAGTAAAAAAAACAAAACACATTAATATACCTAGAACAGTCCCCCCCCGCCCCGCCCACTACCACAAGCAGGGACTGAAATGCCCATAGCTCACTTTCAAAAATTCAAATTTGTTGAATGAATAAATTATGCTAACAATAGCACATAACATAAACTGAACACATGGTAGTCTTAAGCACTTTACATGTTAACTCATTCAATAATGACCCTATAAAGTAGGTATCATTTATTTATTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTGTAGTAGAGACAGGTTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACAGGTGATCCACCGTGCCCGGCCGAGTAGGTATCATCTTAACTCGCATTTCACAGATAAAGATGTGAAGGTTGACACTGAAAGGTGAAAATACTTGCCTAATGTCAAACTCAAGGCAGAGCCAAGCTCTGAACCCCTGGCTGTCTGACTCTATGCTATACCTGACTCCCTGCGGCAGGCTGGGAGGAGACGGGGAAGTGAAACAAGTTCCCCACCCCCAGAGAAACCTAGGCCAGGAATGTGTGGATGGCCTTTGGAGAACAGGGCTGAAGGCCAGGCCCCACCTGCAGATTCAGGGCTAGATGTCGTGTCTTGGTCTGTTCTAGGTCACTCTGGGAGTACTTGAGCCGCATCTGCAGTCCATGGGCCTGAGACTGCACCTGACGCAGCTCTGCCTCTTTCCGTTTTGCCTTCATCTGCTCCTGAAGGGAACAAGAAAGAAGGGCTAGGTGGTAAGGTGGTGGCTGACCTAGGCTTAGGACTCCCACTGCTAAAAACAGCACTGCCTGTGGCTTACTTTCAGCTCCTCTGTCAAGCGCTCCTTCTTCTCTTTCAACTTGTCTACTGCTTTCTCATCCCAGCGCCGTGCCTTGGCCTTCAGGTCACTGGCCCCACCAGAGATCACTCCTGACTTCTGGAATAGGGTTCCATCCAGTGCCACTGTCTACACACAGCAGGGGGAAGAGAGAAGAGGGGGAGAAGCTGAACAAATGAATCTCCAGTACTGAGCCTGTCCAGCTCCAGCCTGGGCAAGGGAATCCACACCTTGTGGCGCTGGTGGCCTCCAAAGGCAATGCGGCGGGCATCTTCCACGTTGTCACAGACAAGGGCATTGCCACAAGCATACTGCAGGGCCTTTTTGATATGAGGTGGCTCATAGCGAATCACATCAATCACTAGCTTGGCCCCCTTCAGCTCCCGGAGTTTCTCATCTGTAGGCTTCACCTGTGGGGAGAAGCTCAGTCAGTGGCAGAACACAAACAGGGAGTACTAGAGGAGGGGCCCTTGAACACTGGCCTGACCCAATCCCCAACAAGCCTCACCTCCAGGTAGTCAAGAGGCAAGAAGGTCTCAGGCTCCCCACGCTGCTCCTTGATATACTGAATACAGTCCCGGCCTGTCTTCTCCGAGTCCACAATAATGGCATCCATGTTCTTGCCCAAAACCCTGGTTACAGCAATCTGATACTTCTTTTGTGTGGGCTGGCATAGGTCAATGAGGCGGCCGTACTGAGTAAAGTAGGAAGGGAAAACTGAAGTATGAAGCTTTTGGAAGCTGGCTCAGGAATCCTAATTCCCAGTATGGAAAGGGGGACAGACTAGAATCTATATCAGGAAGTGAATGCAACTGTATTGCCTAGTGGTTAAGATAACCCAATACCAAGCATGGTAGTGTGTGTTTGTAATCCTAGCTACTTGGGAGGTTGCAATGGGAGGACAGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAATGAGACCCTGTCTCAAAACAAACAAAAAAGACAGCCCACTAGTTCTGTACCCATGCAACCCTACCCTATCTGAATGAGACTGTATGGACTGAGGAGGAGGCAATTGCAGACTAGCTTGCTGTGTGCACTCCAGATCAGCACAGTGGCCAATCCTAACGTCCCTTTGAAAGGTGGAAAAGTTTGGGTAAGAGAAGGGAGGTAAAGAAATGAATAAATGAGTTATGTAATGAGGGAAACTCAGTATTACATTAACACCTCAAAAGAGGTTCAGAGCAAGAGATGATATTGTCTCTTAGCACAATTATCCCAGATGCCTGAAAGTATGAAGCTATGTTTGCCGAGAACACTCCTGGTTTTGGAACCTAACAAGATTGAATAGAAGCCTGCAAACCTGAATGGCCTCACCCTAGGAGACATTTTTACATGACATGATCATGGACTAGACTAATTATTAATTAATGACTCAGTGGGATTCTAGTAATGTGCCAGTATCTTTCTACTCTTTTTTGGAGACGGAGTCTCACTCTGTTGCCCACGCTGAAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACCCCTGACCTCCGATGATCTGCCCGCCTCGGCCTCCCAAAGTGCGAGGATTACAGGCGTGAGCTACCGCTCCCAGCATCTTTCTATTTATTACATGATTGTTCTGATGTAAGGGATCTGTGTTTGAAGATCAAAGTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTA
Task1_train_29968
Given a variant located on Chromosome X and affecting SMC1A (structural maintenance of chromosomes 1A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
GTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTCTGCCTTTCGCTGCTGGCGGCTGCTCTCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTC
GTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTTTGCCTTTCGCTGCTGGCGGCTGCTCTCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTC
Task1_train_29969
Gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
GAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTCTGCCTTTCGCTGCTGGCGGCTGCTCTCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTA
GAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTCTGCCTTTCGCTGCTGGTGGCTGCTCTCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTA
Task1_train_29970
Here is a variant affecting SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
ATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTCTGCCTTTCGCTGCTGGCGGCTGCTCTCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCC
ATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATGGAAGCTTCACATCTCTTCTCCCATACCTTGCCTTATGCATCCATCTGGCTGTTCTCTGTATCCTTTGTAATATCCTTCATAATAAATGGGTAAACATAAGTAAAACATTTTCCTGAGTTCTGTGAGCTGCACTAGTAAATTAATCGAACCCAGGGAGGGATTCTCGGGAACTGTAATTTATAGCAGGTCAGTCAGAACCACAAGTCACAACCTGAGACTTGCAATTGGCACCTGAAGTCTTGGACTGAGCCCCTAACCCACAGGATCTGATGCTATCTCCAGATAAATAGTGTCAGAGCTGAAGTGAATTATAGGTCACCCAGCTGGTGTCTGCTGGAGAATTGCTTGGTGTGTGAGGAAAAACCCCCACACTTCTGGTGTCAGAAGTGAAGTGTTGTGCTGGTTGTGAGAGTAGAAAAAACACTTTGGTTTTTTCCTATCTCACAGAAGAACACAGCCCCCATGCTATCAAGGAAAAGCCTATTCTGGTTCCCAAGCAATGACTTCAGGCAGTCGTGTCTGAATCCAGAATCATCTTTCTAAACCTCACATCTACCATTTTACAGACCACCACCACCCAGGCACTATGCCAAGTATCTTATATATATTATTTCAAATTCTCACAAGCACTTAGCAAAATAAATCTGGCTGGGCGTGGTGACTCACGCCTGTAACCCTACCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGTTGGGCATGGCGGCGAGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCAGAGATTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATCAATCAATCAATCAATCAATCTCTTCTACCAGTTCCCTTCCTGCAGCCTCCAAAACCAAGCCTGGTTCCCTAAGAACTATCAGATTAAGGGGGCAGGGACTGACTCTAACCATACTTATCTCCCCAGCAGTGTCTAGAGAAGTGATAGGGAAATATTAGTGGAACCAAACTAAGTTGAACCCAGGTATGGGATAATATTCAGGGAACCTGGGAACTCAGGATTTGGTGAAAGAGGCCAAAAGATCAAGAGATCTGATAAAGCTCAGGGTGTCCCTAAAAGCTACTGGACCAGTTAATACATGCCAAGGGAGCCCCTTTATAAGACTGCACAGAGCTACTTCCTGGGAGAGTAATTCCAGCCCCATGGCCCCACCTGCTTCCAAAATCTTTCCTGGTTTTCCAATTCCCCTCCCAGAGGCATAGACATAGCAAGACAAAACCTTCAGAAAGACGCAATTGGTATGATGAAAAGAACATGATTGCCTAGTATGACAGGTTGAAAAATAAAAAAAAAAAAAAAAAAAAAAGAACATGAGCTCAGGAGAACAAGTTGGGTTTGAACTGCAGTTCTTCCTCTTAGAAGCGGTGCTTTTTTAAACCTCTCCGAGCCTCATTTCCCCCAACAATAAAAATGGGATTGGCAACCCTGTCCTTACAGGGCTGCTGGGAAAATCGTGTGACAGTGAGTGTAAGTGCTCAGGAAATGAGTTCCCTCTCTGCTCTTACCACAGAGCCAGGGTAAAGGCGCTTGATGCTTTCCATTATCTCTGCCTTTCGCTGCTGGCGGCTGCTCGCCTGGCGGTCGATGCGGGCATCCCCTAGCTGCTCCATCACCTGGTTCAGCTCCTTATTGATTTCATCAATACGCCGCTTGGCCATCTCCACCTCCTCTGTCAGCTCCCCCTCTAGCTTCTTCTGCTCTTCTAGGGACTGCCTACAAAGTGAGGGCACACAGGAGTTACTCCTGCTGGTGAGAAAATACTCCTGGCTCAGAGAGCTCTGGGGGTCCTGCATGAAGAGGGGCATGTAGGTAGGGTCACAAGAACAGGCCTGGAAGTAAGGGGGACAGATGCAGAGCTACATACTTGCTAGTGGTGATGTATTCCTCCAGTTTCTCAATCCGCTTCTGATTCTCTTCAATTTCCCGCAGCTTTTGCTTGATCTTGGCCTGGGAAACAAACATTCCATCATCAGGGGCTGCACGAGTTTACGCCAAGACCATGGGGGCTCTAGATCACACCCTTTATGTGCCCACTCATCCAAGAGCCGAACAGTCCAGGACAATCTGTCACTAATATAGGAGGCCTACTAAAAAGCAGACATAGATGGTGTTCGGTTTGATCTACTAACTAATGATGGGGGCCTCCCAGAGCTCCAGAACCTCTCATAGGTGTTCTACCCAGCCAAGGCATCTTCTTCACCAACCATGGAGGCTCAAATCAAGATAAAGCTTCACAGGCCTTTCTGTACCTGTTTCCTCATCTGCAAAATGTGGGTAATCTCCACTGCATAGAATACACATTAAGTGCTTAATATAGGGTTGTTATTAATATTAATGACTATCACATTATTTTTAAAAAATTTTTATTATTTTTTAAAATTTGAGACAGGGTCTCACTGTGTTGCTCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCCACCACGCCTGGCCAACATTCTTTTAAATATTTAAAAGTGCTTAGCAGAATGCCTGAACACTGTACACTCCTGGGACACTATGACAACTTTCTATCATTGCTGTTATTACAATATTGATATCAGGGAGGCAGTAAGTAAAGTATATTTGGTAAGAGTGTGGGCTTTAGAGCTACAATGCCCAGGGTCTGGTTCTGATACTTAATAGTTATGTGAGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCTGATCGCAGAGGCAGGCAGGAGTTTAAGACCAGCCTGGGCAACAAGCAGAAACCCTGACTCTATAAAAATTAAAAAATTAGGAGGCCGAGGCGGGCGGATCACTTGAGTTCGGAAGTTCAAGACCAGCCTGGTCAACATGGTGAAATCCCATCTCTACTAAAACTACAAAAAATTTAGCCAGGTGTGGTGGCACCCACCTGTCATCCCACCTACACGGGTGGCTGAGACACAAGAATCACTGGAACCGGGCTGGGTGCGTTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGAATGGTGGCTGGTGCCTGTAATCTCAGCTACTTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGTAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTGCGTCTCAAAAAACAATAAAAATAAAAATAAAAAAATAAAAAGAATCACTTGAACCCGACAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCC
Task1_train_29971
This alteration in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; not provided
GACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAG
GACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCCGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAG
Task1_train_29972
Here is a mutation in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
GAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTG
GAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGTGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTG
Task1_train_29973
This sequence variant lies in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Developmental and epileptic encephalopathy, 85, with or without midline brain defects
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCATTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
Task1_train_29974
A mutation in SMC1A (structural maintenance of chromosomes 1A), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCATTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
Task1_train_29975
A sequence alteration has been identified in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCATTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
Task1_train_29976
The gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCCTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGT
Task1_train_29977
This gene mutation involves SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGA
AAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGACGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGA
Task1_train_29978
This variant affects the gene SMC1A (structural maintenance of chromosomes 1A) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Congenital muscular hypertrophy-cerebral syndrome
AGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGC
AGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACAGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGC
Task1_train_29979
This mutation is located in gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Wiedemann-Steiner syndrome
TCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATATCCAGCCTAATCTGAATCTAAACAAGCCTTCAGACTTATCTTCCAGTTCCTAGGAAATACAGCAATACAATATAGAGGAACATAGTAAGGTTTTCATGAGGAAATCTTAACACAAACACAGAATGTG
TCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAAATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATATCCAGCCTAATCTGAATCTAAACAAGCCTTCAGACTTATCTTCCAGTTCCTAGGAAATACAGCAATACAATATAGAGGAACATAGTAAGGTTTTCATGAGGAAATCTTAACACAAACACAGAATGTG
Task1_train_29980
This variant impacts the gene HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; HSD10 mitochondrial disease
AAGCCTTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTACAACTCGGACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTC
AAGCCTTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTACAACTCGGACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTGTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTC
Task1_train_29981
The following genetic variant occurs in HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; HSD10 mitochondrial disease
TTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTACAACTCGGACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGA
TTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTACAACTCGGACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCACTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGA
Task1_train_29982
Here is a variant affecting HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; HSD10 mitochondrial disease
TAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACAAGTCGCTCCGCCGTGGCCAGGCCCAGGCCCGAGGCTCCTCCGGTTATTACCGCCACCAGGCCCTGTCAAAAGGGACATGGTCAGGGTCAGCTGTTACATTGCCCAGACCATCCCCACGCTGTCGCCTGCCTGTTCTCCAGGCTTCTGAGGAGAAGGGGGGAGGGGAGAGGTCGTGGTCACCCCTGCGGGTAAACTAGGTGTGCTGCTTCTCCTCAGCGTTGGGACCTCGGGGGCAGAAGGGATCTCATCCCCAGACAGCCCGTCCCGTGACGATAGATAGATAGATGATTGATAGATAGATAGATAGAC
TAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCAGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACAAGTCGCTCCGCCGTGGCCAGGCCCAGGCCCGAGGCTCCTCCGGTTATTACCGCCACCAGGCCCTGTCAAAAGGGACATGGTCAGGGTCAGCTGTTACATTGCCCAGACCATCCCCACGCTGTCGCCTGCCTGTTCTCCAGGCTTCTGAGGAGAAGGGGGGAGGGGAGAGGTCGTGGTCACCCCTGCGGGTAAACTAGGTGTGCTGCTTCTCCTCAGCGTTGGGACCTCGGGGGCAGAAGGGATCTCATCCCCAGACAGCCCGTCCCGTGACGATAGATAGATAGATGATTGATAGATAGATAGATAGAC
Task1_train_29983
With a mutation on Chromosome X in gene HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; HSD10 mitochondrial disease
CCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACAAGTCGCTCCGCCGTGGCCAGGCCCAGGCCCGAGGCTCCTCCGGTTATTACCGCCACCAGGCCCTGTCAAAAGGGACATGGTCAGGGTCAGCTGTTACATTGCCCAGACCATCCCCACGCTGTCGCCTGCCTGTTCTCCAGGCTTCTGAGGAGAAGGGGGGAGGGGAGAGGTCGTGGTCACCCCTGCGGGTAAACTAGGTGTGCTGCTTCTCCTCAGCGTTGGGACCTCGGGGGCAGAAGGGATCTCATCCCCAGACAGCCCGTCCCGTGACGATAGATAGATAGATGATTGATAGATAGATAGATAGACAGACAGACAGACAGACAGATGCGCCGCGGAGTGCTGACTTTCACCTCTTGAGCCCAACGGCCACAATACCAGGCCTACATAAGCATGACCCTTTCCCTCGAAACCGATCTCTTTCTCCTAGTTCCACGGCCGCGCTGTCCCGGCCCGTAAAGGAAGGCAAGCAACAGAGGCAAAGAACCTTCTACCTTCACGCTCCGACACGCTGCTGCCATCTTGTCGCCGGCCACTCCACGGGATGGGGATGGGGGCGCGGGCGCTCGT
CCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACACCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACAAGTCGCTCCGCCGTGGCCAGGCCCAGGCCCGAGGCTCCTCCGGTTATTACCGCCACCAGGCCCTGTCAAAAGGGACATGGTCAGGGTCAGCTGTTACATTGCCCAGACCATCCCCACGCTGTCGCCTGCCTGTTCTCCAGGCTTCTGAGGAGAAGGGGGGAGGGGAGAGGTCGTGGTCACCCCTGCGGGTAAACTAGGTGTGCTGCTTCTCCTCAGCGTTGGGACCTCGGGGGCAGAAGGGATCTCATCCCCAGACAGCCCGTCCCGTGACGATAGATAGATAGATGATTGATAGATAGATAGATAGACAGACAGACAGACAGACAGATGCGCCGCGGAGTGCTGACTTTCACCTCTTGAGCCCAACGGCCACAATACCAGGCCTACATAAGCATGACCCTTTCCCTCGAAACCGATCTCTTTCTCCTAGTTCCACGGCCGCGCTGTCCCGGCCCGTAAAGGAAGGCAAGCAACAGAGGCAAAGAACCTTCTACCTTCACGCTCCGACACGCTGCTGCCATCTTGTCGCCGGCCACTCCACGGGATGGGGATGGGGGCGCGGGCGCTCGT
Task1_train_29984
This gene mutation involves HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
CTCTCCTGACTGCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATTTTTTCCCCTATCCAAAGGTTTCAAGTCTCAATGCAGCAAATCCTTCTGAACACAGAATCTGAGGAGCACACTGTTCAAACAGTTGGGACAGACAGGTCCCTGCAAAGGCTACTGCCTTTTTAAAACACATGGGGTGGGGATCATGGACGGCATGGAAAGGGGAGAGAAGGTGAGGAAACAGGCGGCGGGGAGAGAATGAGAAGAGGAACAGGTATGCGCTGGGGAAGATGGGGCAGCTGGGACACACACGGTGAGTTGGTGGATTTCATTTATTGGTTTTTGACAATTTCTTTCTGGTTCTTTTTTTAACTCCCCCCTCCCCAGGTCCAACAATGGTAAAAAAAACCCCACGGAGTTGGGCAGGGCCTTATTAGGCCAGCCCAAAGCCTTCAGAGCACTCCTGGATAGCCAACAGTAGCATGTGGCGGAGCTTCTCAAAGCTCTCATAGGCAGGCAGATCCAGCTGATTAAAACTAAGGAAAGAAGAAAGATCAGTTTGTGGTGAGGGATGACAGATAACCAAATCTGTGTGTTCCCATGGTGCCCACCAGCCCCTCCCCTCCCTGAAGAAACCAACTCCCTGCTTCTTGATGACTCCCAATCTTGTCTCAGCCCAGTATGTCCCCCTTTATCTGGCTCCCAAACTGGCCATCAGGCACCAAAACCAAAAATCTGACCCTGTCACTCCTCCTTAAACACCCTGGCCTCACTCGCCCATAGGCTAAAGTGCAAACTTGAAGGTGGTTTTCAGAGTCACTGGTAATCGGACCTCTGCTGAGCTCTTTAGACTTTTGCTCCCTGCAACTCCTCCTTGCTCCAGTCACGCTGGCCCTGGAATACACCATGCTCTCTTGTGGTGCTGTTTACCTGACAGTGTCTCCCCAGCCCCCACTGTGTCTAGCACATCTCATCTCAAACATCACCTCCATAGAAACACCAAATTGTGAGTTACCCAAGGTCCAGGACTCAGCCACATTTGTGTTCCCAATCTTGGGTAGGGTCCTGAAAACATCAAGTATGCAAGCTCAACCTAAGCACTGAAAAGGAGAAACAAACCCTTCCTTTTACCATGTGTGAGCTGAAGGCAGGCGATCTGTGGACCTGTCATCTCGATGGATCTGAAACTTCTGAATGCCATTCATGCCTTCGAGGGCAGCAAAGCCTTGCAGGGGTACCTTGGAAGTACCTGTGACAAACTGGAGGAACTTGGCACGGTCAGCTTGATCGAAAGAACGCAATGCTCTCCAGAACCACTGGATCTGTAGGAAGGGACCCATGAAGCCAGTGTTAGGTAGAAAGCTCCTAGAAGCAGGGTGGGGGGGATGGAATCTAGGAAACAGGACTGGACTTGGTATCTGAGGCAAGTCCCTTCTGTGGGATGAGCTTTAGCTCCTTTCATTCATAAGACGGCCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCA
CTCTCCTGACTGCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATTTTTTCCCCTATCCAAAGGTTTCAAGTCTCAATGCAGCAAATCCTTCTGAACACAGAATCTGAGGAGCACACTGTTCAAACAGTTGGGACAGACAGGTCCCTGCAAAGGCTACTGCCTTTTTAAAACACATGGGGTGGGGATCATGGACGGCATGGAAAGGGGAGAGAAGGTGAGGAAACAGGCGGCGGGGAGAGAATGAGAAGAGGAACAGGTATGCGCTGGGGAAGATGGGGCAGCTGGGACACACACGGTGAGTTGGTGGATTTCATTTATTGGTTTTTGACAATTTCTTTCTGGTTCTTTTTTTAACTCCCCCCTCCCCAGGTCCAACAATGGTAAAAAAAACCCCACGGAGTTGGGCAGGGCCTTATTAGGCCAGCCCAAAGCCTTCAGAGCACTCCTGGATAGCCAACAGTAGCATGTGGCGGAGCTTCTCAAAGCTCTCATAGGCAGGCAGATCCAGCTGATTAAAACTAAGGAAAGAAGAAAGATCAGTTTGTGGTGAGGGATGACAGATAACCAAATCTGTGTGTTCCCATGGTGCCCACCAGCCCCTCCCCTCCCTGAAGAAACCAACTCCCTGCTTCTTGATGACTCCCAATCTTGTCTCAGCCCAGTATGTCCCCCTTTATCTGGCTCCCAAACTGGCCATCAGGCACCAAAACCAAAAATCTGACCCTGTCACTCCTCCTTAAACACCCTGGCCTCACTCGCCCATAGGCTAAAGTGCAAACTTGAAGGTGGTTTTCAGAGTCACTGGTAATCGGACCTCTGCTGAGCTCTTTAGACTTTTGCTCCCTGCAACTCCTCCTTGCTCCAGTCACGCTGGCCCTGGAATACACCATGCTCTCTTGTGGTGCTGTTTACCTGACAGTGTCTCCCCAGCCCCCACTGTGTCTAGCACATCTCATCTCAAACATCACCTCCATAGAAACACCAAATTGTGAGTTACCCAAGGTCCAGGACTCAGCCACATTTGTGTTCCCAATCTTGGGTAGGGTCCTGAAAACATCAAGTATGCAAGCTCAACCTAAGCACTGAAAAGGAGAAACAAACCCTTCCTTTTACCATGTGTGAGCTGAAGGCAGGCGATCTGTGGACCTGTCATCTCGATGGATCTGAAACTTCTGAATGCCATTCATGCCTTCGAGGGCAGCAAAGCCTTGCAGGGGTACCTTGGAAGTACCTGTGACAAACTGGAGGAACTTGGCACGGTCAGCTTGATCGAAAGAACGCAATGCTCTCCAGAACCACTGGATCTGTAGGAAGGGACCCATGAAGCCAGTGTTAGGTAGAAAGCTCCTAGAAGCAGGGTGGGGGGGATGGAATCTAGGAAACAGGACTGGACTTGGTATCTGAGGCAAGTCCCTTCTGTGGGATGAGCTTTAGCTCCTTTCATTCATAAGACGGCCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATGGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCA
Task1_train_29985
This is a variant in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
GCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATTTTTTCCCCTATCCAAAGGTTTCAAGTCTCAATGCAGCAAATCCTTCTGAACACAGAATCTGAGGAGCACACTGTTCAAACAGTTGGGACAGACAGGTCCCTGCAAAGGCTACTGCCTTTTTAAAACACATGGGGTGGGGATCATGGACGGCATGGAAAGGGGAGAGAAGGTGAGGAAACAGGCGGCGGGGAGAGAATGAGAAGAGGAACAGGTATGCGCTGGGGAAGATGGGGCAGCTGGGACACACACGGTGAGTTGGTGGATTTCATTTATTGGTTTTTGACAATTTCTTTCTGGTTCTTTTTTTAACTCCCCCCTCCCCAGGTCCAACAATGGTAAAAAAAACCCCACGGAGTTGGGCAGGGCCTTATTAGGCCAGCCCAAAGCCTTCAGAGCACTCCTGGATAGCCAACAGTAGCATGTGGCGGAGCTTCTCAAAGCTCTCATAGGCAGGCAGATCCAGCTGATTAAAACTAAGGAAAGAAGAAAGATCAGTTTGTGGTGAGGGATGACAGATAACCAAATCTGTGTGTTCCCATGGTGCCCACCAGCCCCTCCCCTCCCTGAAGAAACCAACTCCCTGCTTCTTGATGACTCCCAATCTTGTCTCAGCCCAGTATGTCCCCCTTTATCTGGCTCCCAAACTGGCCATCAGGCACCAAAACCAAAAATCTGACCCTGTCACTCCTCCTTAAACACCCTGGCCTCACTCGCCCATAGGCTAAAGTGCAAACTTGAAGGTGGTTTTCAGAGTCACTGGTAATCGGACCTCTGCTGAGCTCTTTAGACTTTTGCTCCCTGCAACTCCTCCTTGCTCCAGTCACGCTGGCCCTGGAATACACCATGCTCTCTTGTGGTGCTGTTTACCTGACAGTGTCTCCCCAGCCCCCACTGTGTCTAGCACATCTCATCTCAAACATCACCTCCATAGAAACACCAAATTGTGAGTTACCCAAGGTCCAGGACTCAGCCACATTTGTGTTCCCAATCTTGGGTAGGGTCCTGAAAACATCAAGTATGCAAGCTCAACCTAAGCACTGAAAAGGAGAAACAAACCCTTCCTTTTACCATGTGTGAGCTGAAGGCAGGCGATCTGTGGACCTGTCATCTCGATGGATCTGAAACTTCTGAATGCCATTCATGCCTTCGAGGGCAGCAAAGCCTTGCAGGGGTACCTTGGAAGTACCTGTGACAAACTGGAGGAACTTGGCACGGTCAGCTTGATCGAAAGAACGCAATGCTCTCCAGAACCACTGGATCTGTAGGAAGGGACCCATGAAGCCAGTGTTAGGTAGAAAGCTCCTAGAAGCAGGGTGGGGGGGATGGAATCTAGGAAACAGGACTGGACTTGGTATCTGAGGCAAGTCCCTTCTGTGGGATGAGCTTTAGCTCCTTTCATTCATAAGACGGCCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGG
GCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATTTTTTCCCCTATCCAAAGGTTTCAAGTCTCAATGCAGCAAATCCTTCTGAACACAGAATCTGAGGAGCACACTGTTCAAACAGTTGGGACAGACAGGTCCCTGCAAAGGCTACTGCCTTTTTAAAACACATGGGGTGGGGATCATGGACGGCATGGAAAGGGGAGAGAAGGTGAGGAAACAGGCGGCGGGGAGAGAATGAGAAGAGGAACAGGTATGCGCTGGGGAAGATGGGGCAGCTGGGACACACACGGTGAGTTGGTGGATTTCATTTATTGGTTTTTGACAATTTCTTTCTGGTTCTTTTTTTAACTCCCCCCTCCCCAGGTCCAACAATGGTAAAAAAAACCCCACGGAGTTGGGCAGGGCCTTATTAGGCCAGCCCAAAGCCTTCAGAGCACTCCTGGATAGCCAACAGTAGCATGTGGCGGAGCTTCTCAAAGCTCTCATAGGCAGGCAGATCCAGCTGATTAAAACTAAGGAAAGAAGAAAGATCAGTTTGTGGTGAGGGATGACAGATAACCAAATCTGTGTGTTCCCATGGTGCCCACCAGCCCCTCCCCTCCCTGAAGAAACCAACTCCCTGCTTCTTGATGACTCCCAATCTTGTCTCAGCCCAGTATGTCCCCCTTTATCTGGCTCCCAAACTGGCCATCAGGCACCAAAACCAAAAATCTGACCCTGTCACTCCTCCTTAAACACCCTGGCCTCACTCGCCCATAGGCTAAAGTGCAAACTTGAAGGTGGTTTTCAGAGTCACTGGTAATCGGACCTCTGCTGAGCTCTTTAGACTTTTGCTCCCTGCAACTCCTCCTTGCTCCAGTCACGCTGGCCCTGGAATACACCATGCTCTCTTGTGGTGCTGTTTACCTGACAGTGTCTCCCCAGCCCCCACTGTGTCTAGCACATCTCATCTCAAACATCACCTCCATAGAAACACCAAATTGTGAGTTACCCAAGGTCCAGGACTCAGCCACATTTGTGTTCCCAATCTTGGGTAGGGTCCTGAAAACATCAAGTATGCAAGCTCAACCTAAGCACTGAAAAGGAGAAACAAACCCTTCCTTTTACCATGTGTGAGCTGAAGGCAGGCGATCTGTGGACCTGTCATCTCGATGGATCTGAAACTTCTGAATGCCATTCATGCCTTCGAGGGCAGCAAAGCCTTGCAGGGGTACCTTGGAAGTACCTGTGACAAACTGGAGGAACTTGGCACGGTCAGCTTGATCGAAAGAACGCAATGCTCTCCAGAACCACTGGATCTGTAGGAAGGGACCCATGAAGCCAGTGTTAGGTAGAAAGCTCCTAGAAGCAGGGTGGGGGGGATGGAATCTAGGAAACAGGACTGGACTTGGTATCTGAGGCAAGTCCCTTCTGTGGGATGAGCTTTAGCTCCTTTCATTCATAAGACGGCCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTGAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGG
Task1_train_29986
Chromosome X houses a mutation in gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Global developmental delay
CCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGGATACATCCAGTCATTTGTGTGAGTGAGAGACTGTGAAGCAGTGTCTGGGGAGTGCAGTGTCAGATGAAGAGGTAAACAGAGAGTGCCAGGACAGCCCAGAAATGGGGTGGAGATCTGGGAGCAAACAAAAGCACCACTGACAGAGGAGATGTCCCAAAATAGTCAAGGTTAACAGATATTCCAGAAAACACCAATAGGAAAGGTATCAGAGAAATAAATGAGGCCTTGCTTAGGTGAAGTGGGGAGGGGAGAAAAGTGGTATTAGAGAGGGATAAGCCCAGAGTCCAAATTCTCTAAAGGTATTTGGTGGTGGAAGAACATGGCATACAGTCTGTCTAGGGAGACTCCCTGACTTCTTGTGATTACACAGTTGGAGAGCCCACACCACAAGAGATGGGGAGGAATCATTAAACAACTCCAATAGGTCTTTCATCTCATCAGCTCCTACGCTCAGTATTACAAACTGCTGATCTCCTCTAGGTGGCTTCAGAATCACCAGTGAGCAGTTACCAGTTTGGTGGAGGCCACTCATACATGGTCATTCCTAGTATAGCAATATTAAAGCTCTCATTGCAAAGCCAGCAGGTATATCCTTATAAACACCAAAGACTTTCCTGTCTGTCTGGGAATTGTTGGGTAGCTTAGCTAAAGGGCCAGCCAGCAGGGCAGGCCCAGAAGATAGGAGACAACTCAGTAAGATTATCTAAAACCAGATTCCTATGGGGAATTCCTATTAGGGAGGGCAGCACCTCCCTAAATTTGAGGCTAGAGCAAGCCATCGCTACTGTGCAGGAGGCCCCACCTCCCACCCGCCATCTTTTCTCCGTTCCTGGGCCCTTACAATCGATTCTTCATTTCTTCGGGGGATTTGCGATGCAGCTCACGATAGGAGTCTTCAAACACATGGTCACGACGGACATGCACAGCCATGTCTTCTTTCCGGAGCCCCTCATCTAAACGCTCCAGCTCTTGGCGGAAATATCTTGGGAGGTAGAAAAGGAAGGAAGATAGGATTAAGGGTGGCAGAACAAATTTGTTTGTGTGATTAGGAAGAAGACCCACAATGATGCTCCTTCTATCCTCCAAACACTTTGATCTCTGCTCCACACCTGTTTGGGAAATGCCCAGTAGTTGGGAGAGGTAGATCACTCATTACCAACTCTAAATTTTTCTTACCTCCACTGAGTAAGGGCCCACAAAGATTGTGACATGTGATTTCTGCCACAAGCAGGTAAGCATGTATACATGCACGAGGAGAAGGAGAGGCATAGGGATGACTCCAGGAGTGTTGTGGAAGCCCCTGGAACCCTGCTGTGTGTGTTCTATGGCCACCTGTGCCTCCTGTACTACCCCCAACGGATGGAACAGAACTTTAGAAACTGTGTGGTTCAAAAATCATGTGACTCTGTTTTGCTGATGAAAAATGCAGATGGGGTGGAGAAGCCCAGGAGTATTTAGGTATGATGGCCATCAATGCTACAGCTGTCTCTTCCCTCCTCACCACCACCATTCCAAGTGCTGTCACCAAAGGAAATTTGTGGCCTCAAGAGTAACTTCAGAGGCGAGTTACCATTTGGGGAGTTCTCACCACCCCTCTACCCCCCAATATCCAGGACACATACTTGCGCTTGACATCAAAGTCGAGGACACGAATGTAGTCTACCAGGACAGCAAAAGGCCCATCAGCAAGGTGGGTCGTGGACTGCCGTAGGATCTGGTTTAACACAGTG
CCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAACATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGGATACATCCAGTCATTTGTGTGAGTGAGAGACTGTGAAGCAGTGTCTGGGGAGTGCAGTGTCAGATGAAGAGGTAAACAGAGAGTGCCAGGACAGCCCAGAAATGGGGTGGAGATCTGGGAGCAAACAAAAGCACCACTGACAGAGGAGATGTCCCAAAATAGTCAAGGTTAACAGATATTCCAGAAAACACCAATAGGAAAGGTATCAGAGAAATAAATGAGGCCTTGCTTAGGTGAAGTGGGGAGGGGAGAAAAGTGGTATTAGAGAGGGATAAGCCCAGAGTCCAAATTCTCTAAAGGTATTTGGTGGTGGAAGAACATGGCATACAGTCTGTCTAGGGAGACTCCCTGACTTCTTGTGATTACACAGTTGGAGAGCCCACACCACAAGAGATGGGGAGGAATCATTAAACAACTCCAATAGGTCTTTCATCTCATCAGCTCCTACGCTCAGTATTACAAACTGCTGATCTCCTCTAGGTGGCTTCAGAATCACCAGTGAGCAGTTACCAGTTTGGTGGAGGCCACTCATACATGGTCATTCCTAGTATAGCAATATTAAAGCTCTCATTGCAAAGCCAGCAGGTATATCCTTATAAACACCAAAGACTTTCCTGTCTGTCTGGGAATTGTTGGGTAGCTTAGCTAAAGGGCCAGCCAGCAGGGCAGGCCCAGAAGATAGGAGACAACTCAGTAAGATTATCTAAAACCAGATTCCTATGGGGAATTCCTATTAGGGAGGGCAGCACCTCCCTAAATTTGAGGCTAGAGCAAGCCATCGCTACTGTGCAGGAGGCCCCACCTCCCACCCGCCATCTTTTCTCCGTTCCTGGGCCCTTACAATCGATTCTTCATTTCTTCGGGGGATTTGCGATGCAGCTCACGATAGGAGTCTTCAAACACATGGTCACGACGGACATGCACAGCCATGTCTTCTTTCCGGAGCCCCTCATCTAAACGCTCCAGCTCTTGGCGGAAATATCTTGGGAGGTAGAAAAGGAAGGAAGATAGGATTAAGGGTGGCAGAACAAATTTGTTTGTGTGATTAGGAAGAAGACCCACAATGATGCTCCTTCTATCCTCCAAACACTTTGATCTCTGCTCCACACCTGTTTGGGAAATGCCCAGTAGTTGGGAGAGGTAGATCACTCATTACCAACTCTAAATTTTTCTTACCTCCACTGAGTAAGGGCCCACAAAGATTGTGACATGTGATTTCTGCCACAAGCAGGTAAGCATGTATACATGCACGAGGAGAAGGAGAGGCATAGGGATGACTCCAGGAGTGTTGTGGAAGCCCCTGGAACCCTGCTGTGTGTGTTCTATGGCCACCTGTGCCTCCTGTACTACCCCCAACGGATGGAACAGAACTTTAGAAACTGTGTGGTTCAAAAATCATGTGACTCTGTTTTGCTGATGAAAAATGCAGATGGGGTGGAGAAGCCCAGGAGTATTTAGGTATGATGGCCATCAATGCTACAGCTGTCTCTTCCCTCCTCACCACCACCATTCCAAGTGCTGTCACCAAAGGAAATTTGTGGCCTCAAGAGTAACTTCAGAGGCGAGTTACCATTTGGGGAGTTCTCACCACCCCTCTACCCCCCAATATCCAGGACACATACTTGCGCTTGACATCAAAGTCGAGGACACGAATGTAGTCTACCAGGACAGCAAAAGGCCCATCAGCAAGGTGGGTCGTGGACTGCCGTAGGATCTGGTTTAACACAGTG
Task1_train_29987
This variant lies on Chromosome X and affects the gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Intellectual disability, X-linked syndromic, Turner type
CGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCCGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGGATACATCCAGTCATTTGTGTGAGTGAGAGACTGTGAAGCAGTGTCTGGGGAGTGCAGTGTCAGATGAAGAGGTAAACAGAGAGTGCCAGGACAGCCCAGAAATGGGGTGGAGATCTGGGAGCAAACAAAAGCACCACTGACAGAGGAGATGTCCCAAAATAGTCAAGGTTAACAGATATTCCAGAAAACACCAATAGGAAAGGTATCAGAGAAATAAATGAGGCCTTGCTTAGGTGAAGTGGGGAGGGGAGAAAAGTGGTATTAGAGAGGGATAAGCCCAGAGTCCAAATTCTCTAAAGGTATTTGGTGGTGGAAGAACATGGCATACAGTCTGTCTAGGGAGACTCCCTGACTTCTTGTGATTACACAGTTGGAGAGCCCACACCACAAGAGATGGGGAGGAATCATTAAACAACTCCAATAGGTCTTTCATCTCATCAGCTCCTACGCTCAGTATTACAAACTGCTGATCTCCTCTAGGTGGCTTCAGAATCACCAGTGAGCAGTTACCAGTTTGGTGGAGGCCACTCATACATGGTCATTCCTAGTATAGCAATATTAAAGCTCTCATTGCAAAGCCAGCAGGTATATCCTTATAAACACCAAAGACTTTCCTGTCTGTCTGGGAATTGTTGGGTAGCTTAGCTAAAGGGCCAGCCAGCAGGGCAGGCCCAGAAGATAGGAGACAACTCAGTAAGATTATCTAAAACCAGATTCCTATGGGGAATTCCTATTAGGGAGGGCAGCACCTCCCTAAATTTGAGGCTAGAGCAAGCCATCGCTACTGTGCAGGAGGCCCCACCTCCCACCCGCCATCTTTTCTCCGTTCCTGGGCCCTTACAATCGATTCTTCATTTCTTCGGGGGATTTGCGATGCAGCTCACGATAGGAGTCTTCAAACACATGGTCACGACGGACATGCACAGCCATGTCTTCTTTCCGGAGCCCCTCATCTAAACGCTCCAGCTCTTGGCGGAAATATCTTGGGAGGTAGAAAAGGAAGGAAGATAGGATTAAGGGTGGCAGAACAAATTTGTTTGTGTGATTAGGAAGAAGACCCACAATGATGCTCCTTCTATCCTCCAAACACTTTGATCTCTGCTCCACACCTGTTTGGGAAATGCCCAGTAGTTGGGAGAGGTAGATCACTCATTACCAACTCTAAATTTTTCTTACCTCCACTGAGTAAGGGCCCACAAAGATTGTGACATGTGATTTCTGCCACAAGCAGGTAAGCATGTATACATGCACGAGGAGAAGGAGAGGCATAGGGATGACTCCAGGAGTGTTGTGGAAGCCCCTGGAACCCTGCTGTGTGTGTTCTATGGCCACCTGTGCCTCCTGTACTACCCCCAACGGATGGAACAGAACTTTAGAAACTGTGTGGTTCAAAAATCATGTGACTCTGTTTTGCTGATGAAAAATGCAGATGGGGTGGAGAAGCCCAGGAGTATTTAGGTATGATGGCCATCAATGCTACAGCTGTCTCTTCCCTCCTCACCACCACCATTCCAAGTGCTGTCACCAAAGGAAATTTGTGGCCTCAAGAGTAACTTCAGAGGCGAGTTACCATTTGGGGAGTTCTCACCACCCCTCTACCCCCCAATATCCAGGACACATACTTGCGCTTGACATCAAAGTCGAGGACACGAATGTAGTCTACCAGGACAGCAAAAGGCCCATCAGCAAGGTGGGTCGTGGACTGCCGTAGGATCTGGTTTAACACAGTGCGGTGAGTCTCTGAGGGGAGAAGTGACAGCAGGAATTAAGCACATCATCTGCCCCAGAAGCTGTAAGACAGCCAACCAGCTAGCAACTCTCTCTTCCTTCCTCTTCCTTATTTCAGGGCTCTAAAAGGACTAGTCAAAACCAAGGGCCAGCCCTTGAGGTGTGAACGTGAATCTGAGCATTTCTATTCTAAACCTGAGTATCCTGAGGCCAAGGGAAACC
CGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAATGTGAGCCACTGTGTCCAGTGAAGTTAAGCTGGGTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGAAGAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCTTCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACTTGGCTAATTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAACTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAAAGTTAAGTATTTTTGATCAAGTGTTTTGTCTTTTGTGCAAGGCATTTGTGGCTCTGTCATAGCAGAGGAAAACAAAACATGCCTATCAAATGAATCAAGTCCGACCTCTTCTCATATTGAGCAACTAGAGGTCTAGGAACATTTCCCCTACCTGTCATTCTCATCTGGCATACCAGGTGTACATACTCCTTCTTATTCTCCTCTGTTACCAAGATGTTGGCCCCATTGGGTTTGAGGTCACGAACTTCACAAACTCCAAACTCTTGGACCTAGAACAACCAAAACACCAATCATACATATCAGACTTCATCTAGGATGGGATTAGATACCTAGGAACACACCCTAAACCCCTTGCCATGTCCTAGGCAGAGAGATGAGGCAAGTCCATACAAAACAGTGACTTTTTCTACTACTCATAGCTCGCAACTCCCCTTATAGGGAAAGGCTTTGGGTAGGAAAGAGGAAAATACTCTTTGGCTCTAAGACCTACAAAAAAGGCAGAAGAGAGTAAGGCAACTATCAGTGGTAAAAGGGAAAAGGGAATGGCTAACATATGTAACGGAATGTAATCTCTTAGGAAAAGAATTTAGGAGAAGAGTAACCTTAACTGCCTTCATTTTCCCCCCACTTACATTTGTACGATTTTTCTACAAAGACCTACCCTTGGGAATGAGGAATTATGTACTGGAGTTTTTTTTTTTTTTTTTTTTTAATAAAGGTGAAACTAGGAAATGGCCTGCAAATTCTGGTTTTCCTGTTTGTGATGTCACTCACAAACACCTGCTACAGCTTTAAGAAGTCAAGATGCTTCCTTAGAACTATGAGAAGGTCACGCAGTGCTAGTTCTAAGGTGAACCTGGAATGGATCTTCCAGATTGGCTGGGATGTGCTGTGATTAGGATTTCCTGACCTACCTCAGTGCTGAAGGTGAGGTCATAGCCTAGTGTGGAGACATCATTTTCCAGCAGATAAACCAGACCTTGGTAGAAGTGGTAATCTTCACTCTCCATATCTGTATATCTAGAAAAACACAATTATACAGGGTCATGGTTTGCGAGTGGGGGGGAAGAAGGAGCACAAGGATGGGACACAAAAAGACCAGACCCCCAGGACTGAAGACAGTCCCAGGACTATGCCTCATCCTCACCTGACTGACTTGCCCAAGATGTGTTTGTAAAAGGATCGAGTAAAGTAGCACTCCAGAAGACGGTTGTCATATACAGCTTTGGCCACAATGCGTCCGACAAACTTGAAGTAGCTGAGGTGGTTGGGGTTGCAGTGGGAAGATGGATTGATGGTGTAGGTGACTCGATCACCAGGTGAGGTACGGAACAAGGCATACATAGGGTTAAACATCTCTCGAGAGATGATCATATACCACTCCTGCAGGAGCCCACCAGCATCCTGCCCTTCTTCTCCTTCAAATACTATATACCTGCATAAGAAAGCAGAAGCAGAAAAGAGCTGTGCAGAAAACCCAGGATACATCCAGTCATTTGTGTGAGTGAGAGACTGTGAAGCAGTGTCTGGGGAGTGCAGTGTCAGATGAAGAGGTAAACAGAGAGTGCCAGGACAGCCCAGAAATGGGGTGGAGATCTGGGAGCAAACAAAAGCACCACTGACAGAGGAGATGTCCCAAAATAGTCAAGGTTAACAGATATTCCAGAAAACACCAATAGGAAAGGTATCAGAGAAATAAATGAGGCCTTGCTTAGGTGAAGTGGGGAGGGGAGAAAAGTGGTATTAGAGAGGGATAAGCCCAGAGTCCAAATTCTCTAAAGGTATTTGGTGGTGGAAGAACATGGCATACAGTCTGTCTAGGGAGACTCCCTGACTTCTTGTGATTACACAGTTGGAGAGCCCACACCACAAGAGATGGGGAGGAATCATTAAACAACTCCAATAGGTCTTTCATCTCATCAGCTCCTACGCTCAGTATTACAAACTGCTGATCTCCTCTAGGTGGCTTCAGAATCACCAGTGAGCAGTTACCAGTTTGGTGGAGGCCACTCATACATGGTCATTCCTAGTATAGCAATATTAAAGCTCTCATTGCAAAGCCAGCAGGTATATCCTTATAAACACCAAAGACTTTCCTGTCTGTCTGGGAATTGTTGGGTAGCTTAGCTAAAGGGCCAGCCAGCAGGGCAGGCCCAGAAGATAGGAGACAACTCAGTAAGATTATCTAAAACCAGATTCCTATGGGGAATTCCTATTAGGGAGGGCAGCACCTCCCTAAATTTGAGGCTAGAGCAAGCCATCGCTACTGTGCAGGAGGCCCCACCTCCCACCCGCCATCTTTTCTCCGTTCCTGGGCCCTTACAATCGATTCTTCATTTCTTCGGGGGATTTGCGATGCAGCTCACGATAGGAGTCTTCAAACACATGGTCACGACGGACATGCACAGCCATGTCTTCTTTCCGGAGCCCCTCATCTAAACGCTCCAGCTCTTGGCGGAAATATCTTGGGAGGTAGAAAAGGAAGGAAGATAGGATTAAGGGTGGCAGAACAAATTTGTTTGTGTGATTAGGAAGAAGACCCACAATGATGCTCCTTCTATCCTCCAAACACTTTGATCTCTGCTCCACACCTGTTTGGGAAATGCCCAGTAGTTGGGAGAGGTAGATCACTCATTACCAACTCTAAATTTTTCTTACCTCCACTGAGTAAGGGCCCACAAAGATTGTGACATGTGATTTCTGCCACAAGCAGGTAAGCATGTATACATGCACGAGGAGAAGGAGAGGCATAGGGATGACTCCAGGAGTGTTGTGGAAGCCCCTGGAACCCTGCTGTGTGTGTTCTATGGCCACCTGTGCCTCCTGTACTACCCCCAACGGATGGAACAGAACTTTAGAAACTGTGTGGTTCAAAAATCATGTGACTCTGTTTTGCTGATGAAAAATGCAGATGGGGTGGAGAAGCCCAGGAGTATTTAGGTATGATGGCCATCAATGCTACAGCTGTCTCTTCCCTCCTCACCACCACCATTCCAAGTGCTGTCACCAAAGGAAATTTGTGGCCTCAAGAGTAACTTCAGAGGCGAGTTACCATTTGGGGAGTTCTCACCACCCCTCTACCCCCCAATATCCAGGACACATACTTGCGCTTGACATCAAAGTCGAGGACACGAATGTAGTCTACCAGGACAGCAAAAGGCCCATCAGCAAGGTGGGTCGTGGACTGCCGTAGGATCTGGTTTAACACAGTGCGGTGAGTCTCTGAGGGGAGAAGTGACAGCAGGAATTAAGCACATCATCTGCCCCAGAAGCTGTAAGACAGCCAACCAGCTAGCAACTCTCTCTTCCTTCCTCTTCCTTATTTCAGGGCTCTAAAAGGACTAGTCAAAACCAAGGGCCAGCCCTTGAGGTGTGAACGTGAATCTGAGCATTTCTATTCTAAACCTGAGTATCCTGAGGCCAAGGGAAACC
Task1_train_29988
This mutation occurs in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
ACGGTGGAGCCACCGCTTGCATGCTTCTCGGTATGTTTACGCCCCCCTGAACGCTGGATCTGAAATATATTAGTCCTGCAGCCTAGGGCTGCATCCATGGATACTGAGAGCCAGGAAAGCTGGTTGGAGCTCTTTGACTCCATCTTGTGTAGCAGGTCCAGGGGACGGTTCTCATGGCTACTTGACCCACAGCTCTTGCTCGACTTTTTGCCCTTTTCCTCACTTGTAGTGAGTTTGGGTGTTTCAATGCATAGCTCACTCTCACTGCTGCGCTGCAAGATGGAGAGCAGACTGCGGATGACCCAGTGGCGGGTCTGGGCATGGTAGCAGAGATTTCTCAGTACTCGGTGTAGACGGCTAGTATTGAGCTTTGGCTCATCCACAAAAAGTAGGACCAAGAGACAAGAAAGGGCTTCGTGGTCCAGAAGGAGCCGTCCTCGGAGGCGGAGGAGAGTATCTACATTACTGCCAGAAGGCCTGGAAACAGAACATGGTTTTTGGGTAACACTTCAGTGGCTAGAGCTCTGGGATTAGGCATAAGAATGGGGGAGGGGAATGAGCTAGGTATCTCCAAGGAGGCTTGAGAAAGGTGGGTGTCCAGTCCAAGGGCTCTTCATAGTAACAGCTGCCCTCTTAGGTGTCTACTATGTACCAGGCACTTTACAATGACTGTACATCATCCTTTCAGGGCTGCTGTACAGCTTAGAGAATGAAGCCCCCCACCCCCACCAGCTTTTTGTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATACCGGCTCACTGCAACCTCCACCCCCTAGGATTCAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACTAGTGCGCGCCACCACACCCGACTACTTTTTGTATTTTTAGTAGAGATTGGGTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACGACAACTGGCCGAGAACCACCCATTTTTGAGATGATAAACAAGAGGCTCAAACAGGTTAAGTGACTTGCCCTACATCACACGGCGACTGAGAAGACAGCAGAGATTCCAGCCCAGGTATCATCCATCGACTGGTAAAATCTGACCATACCTAAGTCTAGGAGACAATGCTAGTTTCTGCCTTCTCTAGACTACCAGGAGTTTGTGGCCTTGTAGGAACCAATCACTCCTTTCACATTTTGGCATGTCAGGCCCACTCTGTTTTAGCCTGGCTAACTCACTCCTCTATACTTCCTTAGCCTAGGTGTTACAAACTCAAGGCAGGTGGTTAGTTGTTTTACTACTTGCATGGGAGACAAGTGGTGTTCCTTCTTGTTAAAACCATAGTTAGCACCTGCTGCCGGCCTGCTTTTGCGATTGTGGTCTTTGGTAGCAAGACTAACCAAAAGGTGTAGTTTTCTGAATGGGGAGTCCAAAGATCTGGCTCTCTCACTTATTCAAGGAAATGGCTTAGAGAGACCATCCATCCTGCCTGTCAGGATTTCAGCTTCTCCACCTATAAAACTAAGGGAGCTGGGCTAATAGACTTGAGTGGTGATATGGTAAGGTAAAAATAGACAAAGGTACCTGTTATGGCTGCTGCTACCCCCCATCTGGAAGGTGCCACCTCTCTGCACAGCAAGGCGAGTATACTGGACCCCACGGTTGCCACTTAAGCGACTGGTGAAAGCTGGAAGGAAAGAAAAAGAAAACTGAGATTGTGGAGAGGGTGTAAACTGGATATAGGTAATACAAAGGTAAGAAAACATAGCCTCATCTGGCTAAAGCTTTCCAGAGCCCTCCCACTTGCCTCCCTCTGTACCCGGGCTTCGGAGAATAGCAGAGAGTGCGGAGGTGCTACTGTGCCCAAACAGACGCTCATGCATGAGCTGTCGCTGCCGGGCTTCTTGCTCTCGTCTCAGGGCTTGAGCCTCAGCTGCAATGTCAGGTGGCATCACAGCTAACACACTGTCCTCCATATCCTCTAGGACACTACGGCGCAGGTCTGAGGGCAGAGTCTGGATGAAGGTCACAGGGTCCATAGGGGTGTCTGAGCTGGCATTCTGTGCTAGTTCTCGTCGCTGCTGCTCAGCTCTCTGCTGTGCCAGTACCTATGGAGCAGAAAAAGTCAATGAGGGCATTTCTCCTGCCAGGCAGCCTGGCCCCACCACCTTCCCGCTCACATACTTCCTCCTGAATGGCTGGAGGCAGGGCAGCCAGAAACTCAGGGCTCACTTCAGTCACACCAGGATTCCCCACCACTGCAGGCGCTGAGCTATTTGTGGAGGGGGCAGTCCGGGTTGGTGGACGAATGCCTAGCTGGTTCTGTAGAACTTCCCGACGGATGTCATCAGGCAGGGCAGCCAGAAAAGAGGGGTCCACACCTTCAGGGAGACTGATACCTGAAGGGAGATATAACATGTAAAGGGATTCACGCCTTATTAATTGCTTGAGACGGGGTCTTGGTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCAACCCTTGCCTCACTGCAGTGTTGAGCTCCTGGGCTCGAGTCTTCCTGCCTCAGCATCTTGAGTAGCTGGGATTACAGGCATGCACCAAAATGCCTGGCTAATTTACATATATATTTTTGTAGAGATGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCTTGGCTTCAGGTGATCCTCTGACCTCTGCTTCCCAAATTTTCAGGATTACAGGCACGAGCCACCGCGCCCAGCCTCTCACACCTCTATTGGTGCCTAATATGTACTTGGAGAAAATAAACCCATGTCACTCCTTGAGGGAAACCAGTGTATATGTCTTCACTGCTTGCAAGACATGGGACACAGAGAAGGCCCACCCCACCTTCCCTGGGCTCAGAACAGCTTTTGTTATTTGCTAGACTGCATGCACTGTTACTTACCCTTCATAAATAACCTACCACGCAGATATCATCACCCCCTCGGTATCATTCATGATCACAGAAATTAAATAATGACCCTAGGTTGTAAAAGGTAGAAGTGGCAGAGTGGGGGAATTTGAGTGAGCCAAGATCAGTTTGACTCCTAAGGCTGGACCCGTTTCATTATGCCATACCAGCACCCCCGCTTATTGTCAGTCCTCCCACATACATGCCCTCCATCTAAATGGAACTGTTTGGCTGGTGGGCATTTCCATGCCAAGGGCTACTAGAAGCCAAAACAATCCCAGGATGACCTGGGCATACACGGAACTCACCCGCAAGGGGATCTTCTTCTTCACTGCTTGTTGAAGGCAACGGCTCTTCTAGGATTCCTCGGGAATCTGCTCCAGAAATGGCCACGGCAGAATCTCTGGTGGAAGAGCTCTCAGAGGATGCAGGTGGGGAGCTGAGGGAAATCATGCTCAGGTTGCTGTCTGTATTATGTCTTCTCGTTTATAAAACACTGCTACAATACCCCTTTCTCACAGAAACCAGCTTTATCTCCCCAGCATAACAAGCATGTCCATTAGTTGACGAGTATGAAATGTGCTTTGAAAGACCCTCCAATATATCCTACCCTTCTTTTGCCCACACATGCTTACCTGTCCTCAGGTGGCTGGGCAGATTCCCCTGACCCATCACTCCTGCCTTGCACTTCCGCCACAGCTGGTGGGGCATCCCCAGGAGTGGAGCTGCCTGCTCTGGGCTGCTCAGAACTGCCAGCTGCTGAAGTGTCACCCACAGCCTCCTCTAAGGTACAGGAAGCCAGGCTGCTTGTATCCATAGGAGAGCCTTCTAGCTGACTGCTGACAGCCGTCAGTGCATCAGAATCCTCAGCTCTCTCTGGGGAAAGTGAGGCTAGGAAGAAGTTGCAGGGAGAGGTTAGGTTTCTATCTGGAACCGGGGCAAAATGACAGATAAGGTCTTTGATAGGGCTGCTTCCTTAGGGGCATCTCAGCTCAGACTTCTCACTTCTCCCTTGCTGTCCCCCTCTCAATCTCACTTTGAGATTTCTAAGGTTCAGCTGAAGCCCTTTCTATCAATTCTTGAACATTTACTGTGTTCCAGGCATGCCTGTGAAACATCTTC
ACGGTGGAGCCACCGCTTGCATGCTTCTCGGTATGTTTACGCCCCCCTGAACGCTGGATCTGAAATATATTAGTCCTGCAGCCTAGGGCTGCATCCATGGATACTGAGAGCCAGGAAAGCTGGTTGGAGCTCTTTGACTCCATCTTGTGTAGCAGGTCCAGGGGACGGTTCTCATGGCTACTTGACCCACAGCTCTTGCTCGACTTTTTGCCCTTTTCCTCACTTGTAGTGAGTTTGGGTGTTTCAATGCATAGCTCACTCTCACTGCTGCGCTGCAAGATGGAGAGCAGACTGCGGATGACCCAGTGGCGGGTCTGGGCATGGTAGCAGAGATTTCTCAGTACTCGGTGTAGACGGCTAGTATTGAGCTTTGGCTCATCCACAAAAAGTAGGACCAAGAGACAAGAAAGGGCTTCGTGGTCCAGAAGGAGCCGTCCTCGGAGGCGGAGGAGAGTATCTACATTACTGCCAGAAGGCCTGGAAACAGAACATGGTTTTTGGGTAACACTTCAGTGGCTAGAGCTCTGGGATTAGGCATAAGAATGGGGGAGGGGAATGAGCTAGGTATCTCCAAGGAGGCTTGAGAAAGGTGGGTGTCCAGTCCAAGGGCTCTTCATAGTAACAGCTGCCCTCTTAGGTGTCTACTATGTACCAGGCACTTTACAATGACTGTACATCATCCTTTCAGGGCTGCTGTACAGCTTAGAGAATGAAGCCCCCCACCCCCACCAGCTTTTTGTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATACCGGCTCACTGCAACCTCCACCCCCTAGGATTCAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACTAGTGCGCGCCACCACACCCGACTACTTTTTGTATTTTTAGTAGAGATTGGGTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACGACAACTGGCCGAGAACCACCCATTTTTGAGATGATAAACAAGAGGCTCAAACAGGTTAAGTGACTTGCCCTACATCACACGGCGACTGAGAAGACAGCAGAGATTCCAGCCCAGGTATCATCCATCGACTGGTAAAATCTGACCATACCTAAGTCTAGGAGACAATGCTAGTTTCTGCCTTCTCTAGACTACCAGGAGTTTGTGGCCTTGTAGGAACCAATCACTCCTTTCACATTTTGGCATGTCAGGCCCACTCTGTTTTAGCCTGGCTAACTCACTCCTCTATACTTCCTTAGCCTAGGTGTTACAAACTCAAGGCAGGTGGTTAGTTGTTTTACTACTTGCATGGGAGACAAGTGGTGTTCCTTCTTGTTAAAACCATAGTTAGCACCTGCTGCCGGCCTGCTTTTGCGATTGTGGTCTTTGGTAGCAAGACTAACCAAAAGGTGTAGTTTTCTGAATGGGGAGTCCAAAGATCTGGCTCTCTCACTTATTCAAGGAAATGGCTTAGAGAGACCATCCATCCTGCCTGTCAGGATTTCAGCTTCTCCACCTATAAAACTAAGGGAGCTGGGCTAATAGACTTGAGTGGTGATATGGTAAGGTAAAAATAGACAAAGGTACCTGTTATGGCTGCTGCTACCCCCCATCTGGAAGGTGCCACCTCTCTGCACAGCAAGGCGAGTATACTGGACCCCACGGTTGCCACTTAAGCGACTGGTGAAAGCTGGAAGGAAAGAAAAAGAAAACTGAGATTGTGGAGAGGGTGTAAACTGGATATAGGTAATACAAAGGTAAGAAAACATAGCCTCATCTGGCTAAAGCTTTCCAGAGCCCTCCCACTTGCCTCCCTCTGTACCCGGGCTTCGGAGAATAGCAGAGAGTGCGGAGGTGCTACTGTGCCCAAACAGACGCTCATGCATGAGCTGTCGCTGCCGGGCTTCTTGCTCTCGTCTCAGGGCTTGAGCCTCAGCTGCAATGTCAGGTGGCATCACAGCTAACACACTGTCCTCCATATCCTCTAGGACACTACGGTGCAGGTCTGAGGGCAGAGTCTGGATGAAGGTCACAGGGTCCATAGGGGTGTCTGAGCTGGCATTCTGTGCTAGTTCTCGTCGCTGCTGCTCAGCTCTCTGCTGTGCCAGTACCTATGGAGCAGAAAAAGTCAATGAGGGCATTTCTCCTGCCAGGCAGCCTGGCCCCACCACCTTCCCGCTCACATACTTCCTCCTGAATGGCTGGAGGCAGGGCAGCCAGAAACTCAGGGCTCACTTCAGTCACACCAGGATTCCCCACCACTGCAGGCGCTGAGCTATTTGTGGAGGGGGCAGTCCGGGTTGGTGGACGAATGCCTAGCTGGTTCTGTAGAACTTCCCGACGGATGTCATCAGGCAGGGCAGCCAGAAAAGAGGGGTCCACACCTTCAGGGAGACTGATACCTGAAGGGAGATATAACATGTAAAGGGATTCACGCCTTATTAATTGCTTGAGACGGGGTCTTGGTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCAACCCTTGCCTCACTGCAGTGTTGAGCTCCTGGGCTCGAGTCTTCCTGCCTCAGCATCTTGAGTAGCTGGGATTACAGGCATGCACCAAAATGCCTGGCTAATTTACATATATATTTTTGTAGAGATGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCTTGGCTTCAGGTGATCCTCTGACCTCTGCTTCCCAAATTTTCAGGATTACAGGCACGAGCCACCGCGCCCAGCCTCTCACACCTCTATTGGTGCCTAATATGTACTTGGAGAAAATAAACCCATGTCACTCCTTGAGGGAAACCAGTGTATATGTCTTCACTGCTTGCAAGACATGGGACACAGAGAAGGCCCACCCCACCTTCCCTGGGCTCAGAACAGCTTTTGTTATTTGCTAGACTGCATGCACTGTTACTTACCCTTCATAAATAACCTACCACGCAGATATCATCACCCCCTCGGTATCATTCATGATCACAGAAATTAAATAATGACCCTAGGTTGTAAAAGGTAGAAGTGGCAGAGTGGGGGAATTTGAGTGAGCCAAGATCAGTTTGACTCCTAAGGCTGGACCCGTTTCATTATGCCATACCAGCACCCCCGCTTATTGTCAGTCCTCCCACATACATGCCCTCCATCTAAATGGAACTGTTTGGCTGGTGGGCATTTCCATGCCAAGGGCTACTAGAAGCCAAAACAATCCCAGGATGACCTGGGCATACACGGAACTCACCCGCAAGGGGATCTTCTTCTTCACTGCTTGTTGAAGGCAACGGCTCTTCTAGGATTCCTCGGGAATCTGCTCCAGAAATGGCCACGGCAGAATCTCTGGTGGAAGAGCTCTCAGAGGATGCAGGTGGGGAGCTGAGGGAAATCATGCTCAGGTTGCTGTCTGTATTATGTCTTCTCGTTTATAAAACACTGCTACAATACCCCTTTCTCACAGAAACCAGCTTTATCTCCCCAGCATAACAAGCATGTCCATTAGTTGACGAGTATGAAATGTGCTTTGAAAGACCCTCCAATATATCCTACCCTTCTTTTGCCCACACATGCTTACCTGTCCTCAGGTGGCTGGGCAGATTCCCCTGACCCATCACTCCTGCCTTGCACTTCCGCCACAGCTGGTGGGGCATCCCCAGGAGTGGAGCTGCCTGCTCTGGGCTGCTCAGAACTGCCAGCTGCTGAAGTGTCACCCACAGCCTCCTCTAAGGTACAGGAAGCCAGGCTGCTTGTATCCATAGGAGAGCCTTCTAGCTGACTGCTGACAGCCGTCAGTGCATCAGAATCCTCAGCTCTCTCTGGGGAAAGTGAGGCTAGGAAGAAGTTGCAGGGAGAGGTTAGGTTTCTATCTGGAACCGGGGCAAAATGACAGATAAGGTCTTTGATAGGGCTGCTTCCTTAGGGGCATCTCAGCTCAGACTTCTCACTTCTCCCTTGCTGTCCCCCTCTCAATCTCACTTTGAGATTTCTAAGGTTCAGCTGAAGCCCTTTCTATCAATTCTTGAACATTTACTGTGTTCCAGGCATGCCTGTGAAACATCTTC
Task1_train_29989
This variant affects the gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Intellectual disability, X-linked syndromic, Turner type
GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATGTATTTGATAATCTACAACATGCAACCTTATCCCCAAGGAGCTTAAAATCTGGCAGTTAGCTATAAAGTGCAATAAAAGTAAAAAACGTAAATAGTGGTTCAAAATTGCGCAGGTTTTCCCACAGGAAGGAAAAGAGACAAATACACATGTGGGACTCAAGAAGAACATTAAGTCTCTAACTGGACTAAAAGTATTGTGAAAGAAAGATATTTTATGTTCTCTTCTGTATCCTTTATGACAAACATAAAATTGAAATTAATTAAAACAGGGTCCTTCATATAGAAGCTAAAGATATCGATAACAGCTCGTGGCAATTATATAACATATAAGTGTTACAGTACAGTATATGCTCATAAGGAACCTGAGTGACTACTCTGGATTTTGTTGTTGTTGCTGTTTGGAGACGGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAAAGGCATGATCATAGCTCCCTGCAGCCTTGACCTCCTGGGTTCAAGCAATCCTCTCACCGAAGTCTCCCGAGTAGCTAGGACTACAGGCACGCACCACCACGCCCCGCTAATTTTTGTATTTTTTGTAGCGATGGGGTCTCACTATGTTGCCCAGACTGGTCTTGAACCCCTGGGCTCAAGTGATCTTCCCGCCTCAACCTCCCAAAGTGTCAGGATTACAGACATGAGCCACTGCACCTGGCCTTACTTTGGCTTTTAAATACAATTAAAATTCACCAATACATTGAAGCAGTTGGTCAGAATTAAAATCAGTATGTAATATAGCTAGAAATGAACCAAGGCATTTCCAGTTGCCAATTATACCGAAGGTCATGGACTTCCATGGGCAGCATATCTATTTCATCTTCAACAGACTGCCTATTTACCTCCCACTTAAAGCTCTGTATGTTAGGCCTTTAGTTCAGTTATCCCACTTCTTTTCCTAAGCCATTTTCTTTTAAGTTGTTTGTTCTGATTCTGTTTCTCTACTGAAGACGTAGGAAAACACACCTAAAATTAACAGGGCACCTAACTAATGATGATAAAAAGTCTAAAGTTGGGCTTCTATAAAAAGAAAATAATTTCTTCTTACAGTGATTTTTAACCAATTAAAAAGCTCACTGATTGCTGCACCTACCTTACTCTTCAAGGACACAAAGGATGCTATGAATATATATTTTGGGATGGGTGTGGCAGAGTACAGAGAGACTTTAAAGCAGCACACTAACACTTAGAGGAGTAGTAAGTACATTAATGTGATGAGAAAATCAAACTATTTCTAGGAATTTAAAAGTAATGTGGGGCTGCTCTAACAACCTAGGGCAAAAATCAATTCATGCAAATTTCCTTAAATACTTTAATACATATATAACATTTCTCATTCATTTCTTGAATCTTGAAAAGGCAAAGCAAAGGTGATAGTACAGAATCTTCCCATCAACCCTATGAAGGATAGTATCTATATCCAAGAAACATTCTACTATTATCTTTGACAATGAAAAACCCAGAGCTCCACAATGAAAAGGAAAGAAGCAATAGAAATAGCAATTTCCTTATTTCTGGATGTACACAATTCTAGTCAAGAACAGGGTACACAGGCTTTAACCTCCCCTACCTCTATGGAACTGTACAGATGCCGGGAAAAGCTGTACTCAATGAGCAAGGCTGTGAAGTTCAACACAGCCAAGAGAAGCATTTTCAGTTGCTCTCTTTCTGGCCTATCACATACGAGCATCCATGACATATTCTCCACTGTCTGTCCAGCATCTGCCAGTATTCCATCGAAGCGGTCCAACAGGTCCACCCAGTGATATAACTCGCACTGGAGAGGGGAGGAAAAAGAGGATGTAAGAATAAGGTAGAAGCGCCGCATGGGTGCTTTCTAACTGAGCTTTGTTACAAGAGATTGCTGAGCATGACACCTAGACAAGTTCACGTCCCACCCTTGCCCATATGAGAAAGATCATACTCTGAGCTAAAAGTGCTGTAGTTCATTGTCATACCCATCTAGATATATGTGCTAACACCAATAGACACCATAAAACCCCTAGAGCTAGGTCTTTAGATGGAGAACTCCGGTTACATTCTAAGATCTACGAAGACAAGAGAACTATCCTTGCCAGAATCCATTTTATCAGAAAAATTCATTTTTAGAGTTATCTAATAAAAATTCTTCTAAACTAAAAATCCAGAAATTATCTCAAACTTATATTGTCAAACCACAGGAATTCTGTGATTGAGATTCTTAAGCATCACCTGTGAAATCAATTCTCCATCCTCAGCCAGCAAAATTTTCCTTGCCACTGGTTTAAAGCTGTGTTAGGCACATGGCACATGCTAGATGCTTATTAATTGCTGAATGAGGCTATCCCATTGTGGTTTCTTATTCCATATCAGAGCATACAAAATGATGTATTAGTATGGTGAGTCCTGTCTTTTGGGAGCTTGACTTCACATACCTTTCCAATGTTCCATGTTTTGATCTGCTGCAGTTCCAAGAGAAGTTGCTCATCATTACAAACTTTGAGTTTGTCTATTAAGGCTCTGCAGTCTGCAGGCTGAGAAAAGAAAAGTATTCACAAAAGATGTTTTGGAATGAGGGAGTTGCAAATAAGGAGAATCAGAAAAGGAACCCTTAAGCTCACACAGCAATTTTCCTTTTGCTAGGATTTACTACTTAAGAAAACGAGATGTGCCAGACAATCTCTTGGGATTAAAATGGAAACCTCATGAGAAAATGCTTTTATTCCCCCAACAATCCACCTGGGCTTAAAAAACAAAAAAAAACAAAAAAAAACAAAAAACAAAACAAAAACCCACCTTGGATTTGGATAAAGGTAGATGCAGACAAACTATTTGGAAAGGTGCTGACAACAAAAACAATAATAAGTTAAACATCTAAAAAAAAAAAAAAAACAATTAAGGAATCTATACCATGGTCTGAAAGTTAACCAGAATGCCTGGTAGGTTATATTGAATCAGAGACTGAAAAGTCCTAGTGAATTCACAATTAAAGGTGAAGATTAGCACTAGCTATATTTTTCTGTTACATAAAATCCTTCACTTGTAAGATGGTAAACAGCTTCCGAACTTCGTAAAACTAGGACTCCATTCTTTCTTGGGGTTCCTATTTCCATACATTTCTGCTCTCTTCTACTGATGAATGGGTCCATTTGTCAGGTAACAAGGAGTGGATTGAGCATTTATAGTCAAGTTTCTGAAAGTGGAAGGAGGGAAAGGGATAGGGGCTGGGAGAGAGAAGCCTTCCGTTAATGAATGGCAGCTGGGAGAAGTGATTATTACACTTGTTCTTTAACTCCATAAAGGCAGTACAGCATCCTGGGAATGGACCAGAGGTCTGGAACCAAACAAGTCTGGATTCACTTTTTAACTTCATGTTTACTAAGCTGTTTGATCATGAGCAAGTCTAACCTCTAAGCCACAGCTCTCTTATCAGAAAAACAGACCTAATAGCTACCTCACAAATATGAAACTCAAACGTCTGCCACATACATAAAATACTTATCTCCCATTACAGGAGCTTAAATATTCAGAGACAGCATACTATTAAAAAGAGTATGACCCTTGGAATCAGGTAGTTGGTAAGCTACCTCTTTGAATCTCAGCATCCTCTTCTGCAAAATAAACTAACATGTACCTATATATCCAGCAATGCTGTCGTGAG
GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATGTATTTGATAATCTACAACATGCAACCTTATCCCCAAGGAGCTTAAAATCTGGCAGTTAGCTATAAAGTGCAATAAAAGTAAAAAACGTAAATAGTGGTTCAAAATTGCGCAGGTTTTCCCACAGGAAGGAAAAGAGACAAATACACATGTGGGACTCAAGAAGAACATTAAGTCTCTAACTGGACTAAAAGTATTGTGAAAGAAAGATATTTTATGTTCTCTTCTGTATCCTTTATGACAAACATAAAATTGAAATTAATTAAAACAGGGTCCTTCATATAGAAGCTAAAGATATCGATAACAGCTCGTGGCAATTATATAACATATAAGTGTTACAGTACAGTATATGCTCATAAGGAACCTGAGTGACTACTCTGGATTTTGTTGTTGTTGCTGTTTGGAGACGGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAAAGGCATGATCATAGCTCCCTGCAGCCTTGACCTCCTGGGTTCAAGCAATCCTCTCACCGAAGTCTCCCGAGTAGCTAGGACTACAGGCACGCACCACCACGCCCCGCTAATTTTTGTATTTTTTGTAGCGATGGGGTCTCACTATGTTGCCCAGACTGGTCTTGAACCCCTGGGCTCAAGTGATCTTCCCGCCTCAACCTCCCAAAGTGTCAGGATTACAGACATGAGCCACTGCACCTGGCCTTACTTTGGCTTTTAAATACAATTAAAATTCACCAATACATTGAAGCAGTTGGTCAGAATTAAAATCAGTATGTAATATAGCTAGAAATGAACCAAGGCATTTCCAGTTGCCAATTATACCGAAGGTCATGGACTTCCATGGGCAGCATATCTATTTCATCTTCAACAGACTGCCTATTTACCTCCCACTTAAAGCTCTGTATGTTAGGCCTTTAGTTCAGTTATCCCACTTCTTTTCCTAAGCCATTTTCTTTTAAGTTGTTTGTTCTGATTCTGTTTCTCTACTGAAGACGTAGGAAAACACACCTAAAATTAACAGGGCACCTAACTAATGATGATAAAAAGTCTAAAGTTGGGCTTCTATAAAAAGAAAATAATTTCTTCTTACAGTGATTTTTAACCAATTAAAAAGCTCACTGATTGCTGCACCTACCTTACTCTTCAAGGACACAAAGGATGCTATGAATATATATTTTGGGATGGGTGTGGCAGAGTACAGAGAGACTTTAAAGCAGCACACTAACACTTAGAGGAGTAGTAAGTACATTAATGTGATGAGAAAATCAAACTATTTCTAGGAATTTAAAAGTAATGTGGGGCTGCTCTAACAACCTAGGGCAAAAATCAATTCATGCAAATTTCCTTAAATACTTTAATACATATATAACATTTCTCATTCATTTCTTGAATCTTGAAAAGGCAAAGCAAAGGTGATAGTACAGAATCTTCCCATCAACCCTATGAAGGATAGTATCTATATCCAAGAAACATTCTACTATTATCTTTGACAATGAAAAACCCAGAGCTCCACAATGAAAAGGAAAGAAGCAATAGAAATAGCAATTTCCTTATTTCTGGATGTACACAATTCTAGTCAAGAACAGGGTACACAGGCTTTAACCTCCCCTACCTCTATGGAACTGTACAGATGCTGGGAAAAGCTGTACTCAATGAGCAAGGCTGTGAAGTTCAACACAGCCAAGAGAAGCATTTTCAGTTGCTCTCTTTCTGGCCTATCACATACGAGCATCCATGACATATTCTCCACTGTCTGTCCAGCATCTGCCAGTATTCCATCGAAGCGGTCCAACAGGTCCACCCAGTGATATAACTCGCACTGGAGAGGGGAGGAAAAAGAGGATGTAAGAATAAGGTAGAAGCGCCGCATGGGTGCTTTCTAACTGAGCTTTGTTACAAGAGATTGCTGAGCATGACACCTAGACAAGTTCACGTCCCACCCTTGCCCATATGAGAAAGATCATACTCTGAGCTAAAAGTGCTGTAGTTCATTGTCATACCCATCTAGATATATGTGCTAACACCAATAGACACCATAAAACCCCTAGAGCTAGGTCTTTAGATGGAGAACTCCGGTTACATTCTAAGATCTACGAAGACAAGAGAACTATCCTTGCCAGAATCCATTTTATCAGAAAAATTCATTTTTAGAGTTATCTAATAAAAATTCTTCTAAACTAAAAATCCAGAAATTATCTCAAACTTATATTGTCAAACCACAGGAATTCTGTGATTGAGATTCTTAAGCATCACCTGTGAAATCAATTCTCCATCCTCAGCCAGCAAAATTTTCCTTGCCACTGGTTTAAAGCTGTGTTAGGCACATGGCACATGCTAGATGCTTATTAATTGCTGAATGAGGCTATCCCATTGTGGTTTCTTATTCCATATCAGAGCATACAAAATGATGTATTAGTATGGTGAGTCCTGTCTTTTGGGAGCTTGACTTCACATACCTTTCCAATGTTCCATGTTTTGATCTGCTGCAGTTCCAAGAGAAGTTGCTCATCATTACAAACTTTGAGTTTGTCTATTAAGGCTCTGCAGTCTGCAGGCTGAGAAAAGAAAAGTATTCACAAAAGATGTTTTGGAATGAGGGAGTTGCAAATAAGGAGAATCAGAAAAGGAACCCTTAAGCTCACACAGCAATTTTCCTTTTGCTAGGATTTACTACTTAAGAAAACGAGATGTGCCAGACAATCTCTTGGGATTAAAATGGAAACCTCATGAGAAAATGCTTTTATTCCCCCAACAATCCACCTGGGCTTAAAAAACAAAAAAAAACAAAAAAAAACAAAAAACAAAACAAAAACCCACCTTGGATTTGGATAAAGGTAGATGCAGACAAACTATTTGGAAAGGTGCTGACAACAAAAACAATAATAAGTTAAACATCTAAAAAAAAAAAAAAAACAATTAAGGAATCTATACCATGGTCTGAAAGTTAACCAGAATGCCTGGTAGGTTATATTGAATCAGAGACTGAAAAGTCCTAGTGAATTCACAATTAAAGGTGAAGATTAGCACTAGCTATATTTTTCTGTTACATAAAATCCTTCACTTGTAAGATGGTAAACAGCTTCCGAACTTCGTAAAACTAGGACTCCATTCTTTCTTGGGGTTCCTATTTCCATACATTTCTGCTCTCTTCTACTGATGAATGGGTCCATTTGTCAGGTAACAAGGAGTGGATTGAGCATTTATAGTCAAGTTTCTGAAAGTGGAAGGAGGGAAAGGGATAGGGGCTGGGAGAGAGAAGCCTTCCGTTAATGAATGGCAGCTGGGAGAAGTGATTATTACACTTGTTCTTTAACTCCATAAAGGCAGTACAGCATCCTGGGAATGGACCAGAGGTCTGGAACCAAACAAGTCTGGATTCACTTTTTAACTTCATGTTTACTAAGCTGTTTGATCATGAGCAAGTCTAACCTCTAAGCCACAGCTCTCTTATCAGAAAAACAGACCTAATAGCTACCTCACAAATATGAAACTCAAACGTCTGCCACATACATAAAATACTTATCTCCCATTACAGGAGCTTAAATATTCAGAGACAGCATACTATTAAAAAGAGTATGACCCTTGGAATCAGGTAGTTGGTAAGCTACCTCTTTGAATCTCAGCATCCTCTTCTGCAAAATAAACTAACATGTACCTATATATCCAGCAATGCTGTCGTGAG
Task1_train_29990
This sequence variant lies in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Inborn genetic diseases
GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATGTATTTGATAATCTACAACATGCAACCTTATCCCCAAGGAGCTTAAAATCTGGCAGTTAGCTATAAAGTGCAATAAAAGTAAAAAACGTAAATAGTGGTTCAAAATTGCGCAGGTTTTCCCACAGGAAGGAAAAGAGACAAATACACATGTGGGACTCAAGAAGAACATTAAGTCTCTAACTGGACTAAAAGTATTGTGAAAGAAAGATATTTTATGTTCTCTTCTGTATCCTTTATGACAAACATAAAATTGAAATTAATTAAAACAGGGTCCTTCATATAGAAGCTAAAGATATCGATAACAGCTCGTGGCAATTATATAACATATAAGTGTTACAGTACAGTATATGCTCATAAGGAACCTGAGTGACTACTCTGGATTTTGTTGTTGTTGCTGTTTGGAGACGGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAAAGGCATGATCATAGCTCCCTGCAGCCTTGACCTCCTGGGTTCAAGCAATCCTCTCACCGAAGTCTCCCGAGTAGCTAGGACTACAGGCACGCACCACCACGCCCCGCTAATTTTTGTATTTTTTGTAGCGATGGGGTCTCACTATGTTGCCCAGACTGGTCTTGAACCCCTGGGCTCAAGTGATCTTCCCGCCTCAACCTCCCAAAGTGTCAGGATTACAGACATGAGCCACTGCACCTGGCCTTACTTTGGCTTTTAAATACAATTAAAATTCACCAATACATTGAAGCAGTTGGTCAGAATTAAAATCAGTATGTAATATAGCTAGAAATGAACCAAGGCATTTCCAGTTGCCAATTATACCGAAGGTCATGGACTTCCATGGGCAGCATATCTATTTCATCTTCAACAGACTGCCTATTTACCTCCCACTTAAAGCTCTGTATGTTAGGCCTTTAGTTCAGTTATCCCACTTCTTTTCCTAAGCCATTTTCTTTTAAGTTGTTTGTTCTGATTCTGTTTCTCTACTGAAGACGTAGGAAAACACACCTAAAATTAACAGGGCACCTAACTAATGATGATAAAAAGTCTAAAGTTGGGCTTCTATAAAAAGAAAATAATTTCTTCTTACAGTGATTTTTAACCAATTAAAAAGCTCACTGATTGCTGCACCTACCTTACTCTTCAAGGACACAAAGGATGCTATGAATATATATTTTGGGATGGGTGTGGCAGAGTACAGAGAGACTTTAAAGCAGCACACTAACACTTAGAGGAGTAGTAAGTACATTAATGTGATGAGAAAATCAAACTATTTCTAGGAATTTAAAAGTAATGTGGGGCTGCTCTAACAACCTAGGGCAAAAATCAATTCATGCAAATTTCCTTAAATACTTTAATACATATATAACATTTCTCATTCATTTCTTGAATCTTGAAAAGGCAAAGCAAAGGTGATAGTACAGAATCTTCCCATCAACCCTATGAAGGATAGTATCTATATCCAAGAAACATTCTACTATTATCTTTGACAATGAAAAACCCAGAGCTCCACAATGAAAAGGAAAGAAGCAATAGAAATAGCAATTTCCTTATTTCTGGATGTACACAATTCTAGTCAAGAACAGGGTACACAGGCTTTAACCTCCCCTACCTCTATGGAACTGTACAGATGCCGGGAAAAGCTGTACTCAATGAGCAAGGCTGTGAAGTTCAACACAGCCAAGAGAAGCATTTTCAGTTGCTCTCTTTCTGGCCTATCACATACGAGCATCCATGACATATTCTCCACTGTCTGTCCAGCATCTGCCAGTATTCCATCGAAGCGGTCCAACAGGTCCACCCAGTGATATAACTCGCACTGGAGAGGGGAGGAAAAAGAGGATGTAAGAATAAGGTAGAAGCGCCGCATGGGTGCTTTCTAACTGAGCTTTGTTACAAGAGATTGCTGAGCATGACACCTAGACAAGTTCACGTCCCACCCTTGCCCATATGAGAAAGATCATACTCTGAGCTAAAAGTGCTGTAGTTCATTGTCATACCCATCTAGATATATGTGCTAACACCAATAGACACCATAAAACCCCTAGAGCTAGGTCTTTAGATGGAGAACTCCGGTTACATTCTAAGATCTACGAAGACAAGAGAACTATCCTTGCCAGAATCCATTTTATCAGAAAAATTCATTTTTAGAGTTATCTAATAAAAATTCTTCTAAACTAAAAATCCAGAAATTATCTCAAACTTATATTGTCAAACCACAGGAATTCTGTGATTGAGATTCTTAAGCATCACCTGTGAAATCAATTCTCCATCCTCAGCCAGCAAAATTTTCCTTGCCACTGGTTTAAAGCTGTGTTAGGCACATGGCACATGCTAGATGCTTATTAATTGCTGAATGAGGCTATCCCATTGTGGTTTCTTATTCCATATCAGAGCATACAAAATGATGTATTAGTATGGTGAGTCCTGTCTTTTGGGAGCTTGACTTCACATACCTTTCCAATGTTCCATGTTTTGATCTGCTGCAGTTCCAAGAGAAGTTGCTCATCATTACAAACTTTGAGTTTGTCTATTAAGGCTCTGCAGTCTGCAGGCTGAGAAAAGAAAAGTATTCACAAAAGATGTTTTGGAATGAGGGAGTTGCAAATAAGGAGAATCAGAAAAGGAACCCTTAAGCTCACACAGCAATTTTCCTTTTGCTAGGATTTACTACTTAAGAAAACGAGATGTGCCAGACAATCTCTTGGGATTAAAATGGAAACCTCATGAGAAAATGCTTTTATTCCCCCAACAATCCACCTGGGCTTAAAAAACAAAAAAAAACAAAAAAAAACAAAAAACAAAACAAAAACCCACCTTGGATTTGGATAAAGGTAGATGCAGACAAACTATTTGGAAAGGTGCTGACAACAAAAACAATAATAAGTTAAACATCTAAAAAAAAAAAAAAAACAATTAAGGAATCTATACCATGGTCTGAAAGTTAACCAGAATGCCTGGTAGGTTATATTGAATCAGAGACTGAAAAGTCCTAGTGAATTCACAATTAAAGGTGAAGATTAGCACTAGCTATATTTTTCTGTTACATAAAATCCTTCACTTGTAAGATGGTAAACAGCTTCCGAACTTCGTAAAACTAGGACTCCATTCTTTCTTGGGGTTCCTATTTCCATACATTTCTGCTCTCTTCTACTGATGAATGGGTCCATTTGTCAGGTAACAAGGAGTGGATTGAGCATTTATAGTCAAGTTTCTGAAAGTGGAAGGAGGGAAAGGGATAGGGGCTGGGAGAGAGAAGCCTTCCGTTAATGAATGGCAGCTGGGAGAAGTGATTATTACACTTGTTCTTTAACTCCATAAAGGCAGTACAGCATCCTGGGAATGGACCAGAGGTCTGGAACCAAACAAGTCTGGATTCACTTTTTAACTTCATGTTTACTAAGCTGTTTGATCATGAGCAAGTCTAACCTCTAAGCCACAGCTCTCTTATCAGAAAAACAGACCTAATAGCTACCTCACAAATATGAAACTCAAACGTCTGCCACATACATAAAATACTTATCTCCCATTACAGGAGCTTAAATATTCAGAGACAGCATACTATTAAAAAGAGTATGACCCTTGGAATCAGGTAGTTGGTAAGCTACCTCTTTGAATCTCAGCATCCTCTTCTGCAAAATAAACTAACATGTACCTATATATCCAGCAATGCTGTCGTGAG
GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATGTATTTGATAATCTACAACATGCAACCTTATCCCCAAGGAGCTTAAAATCTGGCAGTTAGCTATAAAGTGCAATAAAAGTAAAAAACGTAAATAGTGGTTCAAAATTGCGCAGGTTTTCCCACAGGAAGGAAAAGAGACAAATACACATGTGGGACTCAAGAAGAACATTAAGTCTCTAACTGGACTAAAAGTATTGTGAAAGAAAGATATTTTATGTTCTCTTCTGTATCCTTTATGACAAACATAAAATTGAAATTAATTAAAACAGGGTCCTTCATATAGAAGCTAAAGATATCGATAACAGCTCGTGGCAATTATATAACATATAAGTGTTACAGTACAGTATATGCTCATAAGGAACCTGAGTGACTACTCTGGATTTTGTTGTTGTTGCTGTTTGGAGACGGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAAAGGCATGATCATAGCTCCCTGCAGCCTTGACCTCCTGGGTTCAAGCAATCCTCTCACCGAAGTCTCCCGAGTAGCTAGGACTACAGGCACGCACCACCACGCCCCGCTAATTTTTGTATTTTTTGTAGCGATGGGGTCTCACTATGTTGCCCAGACTGGTCTTGAACCCCTGGGCTCAAGTGATCTTCCCGCCTCAACCTCCCAAAGTGTCAGGATTACAGACATGAGCCACTGCACCTGGCCTTACTTTGGCTTTTAAATACAATTAAAATTCACCAATACATTGAAGCAGTTGGTCAGAATTAAAATCAGTATGTAATATAGCTAGAAATGAACCAAGGCATTTCCAGTTGCCAATTATACCGAAGGTCATGGACTTCCATGGGCAGCATATCTATTTCATCTTCAACAGACTGCCTATTTACCTCCCACTTAAAGCTCTGTATGTTAGGCCTTTAGTTCAGTTATCCCACTTCTTTTCCTAAGCCATTTTCTTTTAAGTTGTTTGTTCTGATTCTGTTTCTCTACTGAAGACGTAGGAAAACACACCTAAAATTAACAGGGCACCTAACTAATGATGATAAAAAGTCTAAAGTTGGGCTTCTATAAAAAGAAAATAATTTCTTCTTACAGTGATTTTTAACCAATTAAAAAGCTCACTGATTGCTGCACCTACCTTACTCTTCAAGGACACAAAGGATGCTATGAATATATATTTTGGGATGGGTGTGGCAGAGTACAGAGAGACTTTAAAGCAGCACACTAACACTTAGAGGAGTAGTAAGTACATTAATGTGATGAGAAAATCAAACTATTTCTAGGAATTTAAAAGTAATGTGGGGCTGCTCTAACAACCTAGGGCAAAAATCAATTCATGCAAATTTCCTTAAATACTTTAATACATATATAACATTTCTCATTCATTTCTTGAATCTTGAAAAGGCAAAGCAAAGGTGATAGTACAGAATCTTCCCATCAACCCTATGAAGGATAGTATCTATATCCAAGAAACATTCTACTATTATCTTTGACAATGAAAAACCCAGAGCTCCACAATGAAAAGGAAAGAAGCAATAGAAATAGCAATTTCCTTATTTCTGGATGTACACAATTCTAGTCAAGAACAGGGTACACAGGCTTTAACCTCCCCTACCTCTATGGAACTGTACAGATGCTGGGAAAAGCTGTACTCAATGAGCAAGGCTGTGAAGTTCAACACAGCCAAGAGAAGCATTTTCAGTTGCTCTCTTTCTGGCCTATCACATACGAGCATCCATGACATATTCTCCACTGTCTGTCCAGCATCTGCCAGTATTCCATCGAAGCGGTCCAACAGGTCCACCCAGTGATATAACTCGCACTGGAGAGGGGAGGAAAAAGAGGATGTAAGAATAAGGTAGAAGCGCCGCATGGGTGCTTTCTAACTGAGCTTTGTTACAAGAGATTGCTGAGCATGACACCTAGACAAGTTCACGTCCCACCCTTGCCCATATGAGAAAGATCATACTCTGAGCTAAAAGTGCTGTAGTTCATTGTCATACCCATCTAGATATATGTGCTAACACCAATAGACACCATAAAACCCCTAGAGCTAGGTCTTTAGATGGAGAACTCCGGTTACATTCTAAGATCTACGAAGACAAGAGAACTATCCTTGCCAGAATCCATTTTATCAGAAAAATTCATTTTTAGAGTTATCTAATAAAAATTCTTCTAAACTAAAAATCCAGAAATTATCTCAAACTTATATTGTCAAACCACAGGAATTCTGTGATTGAGATTCTTAAGCATCACCTGTGAAATCAATTCTCCATCCTCAGCCAGCAAAATTTTCCTTGCCACTGGTTTAAAGCTGTGTTAGGCACATGGCACATGCTAGATGCTTATTAATTGCTGAATGAGGCTATCCCATTGTGGTTTCTTATTCCATATCAGAGCATACAAAATGATGTATTAGTATGGTGAGTCCTGTCTTTTGGGAGCTTGACTTCACATACCTTTCCAATGTTCCATGTTTTGATCTGCTGCAGTTCCAAGAGAAGTTGCTCATCATTACAAACTTTGAGTTTGTCTATTAAGGCTCTGCAGTCTGCAGGCTGAGAAAAGAAAAGTATTCACAAAAGATGTTTTGGAATGAGGGAGTTGCAAATAAGGAGAATCAGAAAAGGAACCCTTAAGCTCACACAGCAATTTTCCTTTTGCTAGGATTTACTACTTAAGAAAACGAGATGTGCCAGACAATCTCTTGGGATTAAAATGGAAACCTCATGAGAAAATGCTTTTATTCCCCCAACAATCCACCTGGGCTTAAAAAACAAAAAAAAACAAAAAAAAACAAAAAACAAAACAAAAACCCACCTTGGATTTGGATAAAGGTAGATGCAGACAAACTATTTGGAAAGGTGCTGACAACAAAAACAATAATAAGTTAAACATCTAAAAAAAAAAAAAAAACAATTAAGGAATCTATACCATGGTCTGAAAGTTAACCAGAATGCCTGGTAGGTTATATTGAATCAGAGACTGAAAAGTCCTAGTGAATTCACAATTAAAGGTGAAGATTAGCACTAGCTATATTTTTCTGTTACATAAAATCCTTCACTTGTAAGATGGTAAACAGCTTCCGAACTTCGTAAAACTAGGACTCCATTCTTTCTTGGGGTTCCTATTTCCATACATTTCTGCTCTCTTCTACTGATGAATGGGTCCATTTGTCAGGTAACAAGGAGTGGATTGAGCATTTATAGTCAAGTTTCTGAAAGTGGAAGGAGGGAAAGGGATAGGGGCTGGGAGAGAGAAGCCTTCCGTTAATGAATGGCAGCTGGGAGAAGTGATTATTACACTTGTTCTTTAACTCCATAAAGGCAGTACAGCATCCTGGGAATGGACCAGAGGTCTGGAACCAAACAAGTCTGGATTCACTTTTTAACTTCATGTTTACTAAGCTGTTTGATCATGAGCAAGTCTAACCTCTAAGCCACAGCTCTCTTATCAGAAAAACAGACCTAATAGCTACCTCACAAATATGAAACTCAAACGTCTGCCACATACATAAAATACTTATCTCCCATTACAGGAGCTTAAATATTCAGAGACAGCATACTATTAAAAAGAGTATGACCCTTGGAATCAGGTAGTTGGTAAGCTACCTCTTTGAATCTCAGCATCCTCTTCTGCAAAATAAACTAACATGTACCTATATATCCAGCAATGCTGTCGTGAG
Task1_train_29991
Assess the clinical impact of this variant on gene PHF8 (PHD finger protein 8), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Syndromic X-linked intellectual disability Siderius type
GAGATAAATAACATAATGAACATTCTCTGGTATTAAATAGCAGTGATGTTGCACAACCTTGTAAATATACAAAGAACTGAATTGTACCCTTTAAAATGGTAAATTTTACAATATTTAAGATGTATCTCAATTTTTCAAAACCTCATTTAACTTAATGAAAATACAACATGTCAATATTTGTGTGACACACCTAAATCAATGCTGAGAGGGAAATTTAGGGAAAGCCTGAAATCAATAAACTAAGCTCTCATCTCAAGACTAGAAAAAGAACAAAATAAACCCAAAGCAAGCAGAGGGAAGGAAAAATAAAGATAAAAGCAGAAATCAACACAACTGAAAACAAAAAGACAACAGAGAAAAATCAATAAAACCAAAAGTGGGCCGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAAACCCCAACTCTACCAAAAATACAAAAATTAGCCAGGCGTGGCAGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGGGATCGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGGCTCTTTGGAAAGATCAATAAAATTGACCAACCTATAGAAAATTGACACAAACAAAAGAGAAAGCACAAATAACTAACGTCAGGAATGATACAAAGAATACCACTAGAGACTTGGAAGACATCAAAAGGGTAATAAGAAAATACTATGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCGCTTTGGGAGACTGAGGCGGGTGGATCACCTGAGGTCAAGGTCAGAAGTTCGAGACCAGCCATGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGCAAGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAAGAGAATCTCTTGAGCCTGGGATGCAGGCAGTGGTCACAGTGAGACGAGATCGCATCACTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAGAAAACACTATGAACAACTCCACACATATATTTGACAATTTAGATTAAATAGACCAATTCCTTGAAGAGCAGATGATCGCAACTTATTTAATATGAAATAGAAAATCTGAATAACCTTAAAGATTTTTTAAATTGAATGTTAATTTAAAACTTCCCAAGAAAACAAATCTCCAGGCATATGTGATTGCACTAGAGAATTCTACTATACATTTTAAGAAAATTTAACACTAATTCTGATTAAAGAAATCAAAGAAAATCTAAATAAATGGAGAGATACCCTGTATTCATATAAGACCTAATCAAGTAAAGATGTCAACTCTCCCCAAATTGAGACAACTGGGGGATTTTTTCACAATAAATATACTCAGATCCCACCCAAGACCTAAGAATTCATAATTCTAAGAGTGAAGCCCAGGTACAAACTGTTTAGGGAAAAAAAGCACTATCCCCACCACAGGTCATTCTGACTTAGAGCCTAGAATGCCAGCCTCCCAGGCACTATCCCTAGAGTTACGGGGCTTAGAGTCATGTTCTCTGTTCACCCAGATGACATCAACCCAGGACAAAGAAGTCCATCAGCCTCCTCCTGGACATTCCCCACTTTCAGCCTCCCCAGGTGACCATGCTGCCCACTGACTACCACATGAAATTTCTTGAAGCCCAGTTCTGCGCCTTTCGCTGATATGAGAAAGACATCCCACGTAATCAGATTAATATGCTGTGGGGCCAAAAGCTCCCTTCTTCTTTCCACCCTCCCCAAACCCTCCCAGAAGCACCCAAGGGAAGACCTGTGGGAATGAAAAGTGTCTGTCCTTGCTTCACGGAACACTTGTAGCACTTGTCCACCTGGTCCCCAAAGAACATCTCATTCTGATTAGAGGAACTGCTCCAGCACTCAAAGAGAGTCAGATTGGCATTTGTTGGGCGGATCAGGTAGAAGATCTTTTCACCCTGAAACAAAAAGAGGTTGAAGTGACAAAAATACCAAGGGTTTCCAGAAAAGTCCTTAACGGGTACTCCAAAGGGGTATTTCTCCCATGCTCCAAAACGATGGCAATATGCCAGAGTTCTTGCCCAAACCCATCCAATTATCATTTCTTTGTGGATTTGGAAAACTTCAAAAGGTCACTTTGCTTTTTGTACTTTTAAGTTTCTATAAACTTGACAAAAACAAATTGGAAAGGGCATTTCAAACAAAATTGTTCAAGTTAAGACATATGTACACCAAGTGTTCCTATTTTAGACACAATGCCAAATAAAGAATGGCCTCTACAGATGAGTAGATCAATACTAGTAGCCTTAGGAGAATTTAAGGCCACATTACTGATGAGAAGAAAATTGAATTTGCCTTCAAATGCCATTTACAGAGTGTTCCTTCCCACACCTGCAATCAAAGCTAATAAAAGTTTAAAAGTTCAGTAATCGCCCAAGGACTTCTGGAAGATTATATGTTATGTGATTATCTTTTGGAAGAACATTTATTTCCTAATTGTGTTTTGCCTGGATAAACACCAGAAAGATAATTTGGCAAAAAAAAAAAAAAAAAAAGAAAGAAACAAAAACCCAGTAGCACAAATATATTCTCACAGCATGATTGGTTTAACCAGTATTTCATGATAATAAATTTCAATGTAGAAAAGTAACACTAGAAATATCAGGTGTACAACCGGAGAATTTTGAATCAGGTCTGTAGATTAGGTACTAGTATATCAATGTTAACTTCCTGATTTTGATAACTATACAAATTATTTAAGACTTTGTCTTTGTTTTTAAGACAAAGTTTTAAGACAAACTTGTAGTTAAGAACTACAACTGAATTATTAAGATATAAAGAAATATTATGTCTTTACGCACAAATGTCTCAGGAAAAAAATATATATATAACCATTTTATTGTGTTTGCTTTAGAGAGAGAATATAATAAAATGGTAACATTTGAGGAATCTCAGGGAAGGGCAGACAGACATTCTTCCCATTATTTTTTAACTTTTCTATAAAATGAAATTATTTTAAAATAAAAGAGTTAAACCTAACATTTGCATAATAGCACTTTCATTTACACATTCTACTTCCTAAATGATAAACCAATGGAAACAACTAGGTAAGGACTTGTGATCACTTGGACAAGAGCCACAATCCAAGTTTTCCATTCTTTCCTTTGACTTTTCTGATAAGAAAACTAGGCCAGGCATGTTGGCTCAAGCCTGAAATCTCAGCACTTTGGGAGGTTGAGGCAGGAAGATCACTTGAACCCAGGAGTTCGAGTCCAGCCTGGGCAACACAGTGGGACTCTGTCTCTACAAAAAATAAAGTAAAAAAATTGTCTGGACACAGTGGCTCACGTCTGTAATCCTAGCACTTTGAGGGCCAAGGTGGGAAGACTGCTGGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAGCTAGTCTCTACAAAAATAATTTTTTTTAATTAGCCAGAAGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGGACAGCTTAAGCACAGCAGGTCGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGAGACTGTCTCAAAAAAAAAAAAAAAAAAGGTAAAAAAAATTAGCTGGGAGTGATGGCATGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGTGAGAGGCTGCAGTGAGTTATGACTGCACCACCACACTCCAGCTTGGGTGACAGAGACAGATTCTGTTTCTAAGAAAAAAATAATAATAATAAAAAAGAAAACTAAATAATCTGAACAATGGTGAAAACCAAAATCATTTAAGAAATTTGTTTTCCAGACCTCAAAAATCCTTCATAGTCACTGACAATACACTAATTACAAAATTGTAACAATTACTAAAAATGAAACTAT
GAGATAAATAACATAATGAACATTCTCTGGTATTAAATAGCAGTGATGTTGCACAACCTTGTAAATATACAAAGAACTGAATTGTACCCTTTAAAATGGTAAATTTTACAATATTTAAGATGTATCTCAATTTTTCAAAACCTCATTTAACTTAATGAAAATACAACATGTCAATATTTGTGTGACACACCTAAATCAATGCTGAGAGGGAAATTTAGGGAAAGCCTGAAATCAATAAACTAAGCTCTCATCTCAAGACTAGAAAAAGAACAAAATAAACCCAAAGCAAGCAGAGGGAAGGAAAAATAAAGATAAAAGCAGAAATCAACACAACTGAAAACAAAAAGACAACAGAGAAAAATCAATAAAACCAAAAGTGGGCCGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAAACCCCAACTCTACCAAAAATACAAAAATTAGCCAGGCGTGGCAGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGGGATCGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGGCTCTTTGGAAAGATCAATAAAATTGACCAACCTATAGAAAATTGACACAAACAAAAGAGAAAGCACAAATAACTAACGTCAGGAATGATACAAAGAATACCACTAGAGACTTGGAAGACATCAAAAGGGTAATAAGAAAATACTATGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCGCTTTGGGAGACTGAGGCGGGTGGATCACCTGAGGTCAAGGTCAGAAGTTCGAGACCAGCCATGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGCAAGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAAGAGAATCTCTTGAGCCTGGGATGCAGGCAGTGGTCACAGTGAGACGAGATCGCATCACTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAGAAAACACTATGAACAACTCCACACATATATTTGACAATTTAGATTAAATAGACCAATTCCTTGAAGAGCAGATGATCGCAACTTATTTAATATGAAATAGAAAATCTGAATAACCTTAAAGATTTTTTAAATTGAATGTTAATTTAAAACTTCCCAAGAAAACAAATCTCCAGGCATATGTGATTGCACTAGAGAATTCTACTATACATTTTAAGAAAATTTAACACTAATTCTGATTAAAGAAATCAAAGAAAATCTAAATAAATGGAGAGATACCCTGTATTCATATAAGACCTAATCAAGTAAAGATGTCAACTCTCCCCAAATTGAGACAACTGGGGGATTTTTTCACAATAAATATACTCAGATCCCACCCAAGACCTAAGAATTCATAATTCTAAGAGTGAAGCCCAGGTACAAACTGTTTAGGGAAAAAAAGCACTATCCCCACCACAGGTCATTCTGACTTAGAGCCTAGAATGCCAGCCTCCCAGGCACTATCCCTAGAGTTACGGGGCTTAGAGTCATGTTCTCTGTTCACCCAGATGACATCAACCCAGGACAAAGAAGTCCATCAGCCTCCTCCTGGACATTCCCCACTTTCAGCCTCCCCAGGTGACCATGCTGCCCACTGACTACCACATGAAATTTCTTGAAGCCCAGTTCTGCGCCTTTCGCTGATATGAGAAAGACATCCCACGTAATCAGATTAATATGCTGTGGGGCCAAAAGCTCCCTTCTTCTTTCCACCCTCCCCAAACCCTCCCAGAAGCACCCAAGGGAAGACCTGTGGGAATGAAAAGTGTCTGTCCTTGCTTCACGGAACACTTGTAGCACTTGTCCACCTGGTCCCCAAAGAACATCTCATTCTGATTAGAGGAACTGCTCCAGCACTCAGAGAGAGTCAGATTGGCATTTGTTGGGCGGATCAGGTAGAAGATCTTTTCACCCTGAAACAAAAAGAGGTTGAAGTGACAAAAATACCAAGGGTTTCCAGAAAAGTCCTTAACGGGTACTCCAAAGGGGTATTTCTCCCATGCTCCAAAACGATGGCAATATGCCAGAGTTCTTGCCCAAACCCATCCAATTATCATTTCTTTGTGGATTTGGAAAACTTCAAAAGGTCACTTTGCTTTTTGTACTTTTAAGTTTCTATAAACTTGACAAAAACAAATTGGAAAGGGCATTTCAAACAAAATTGTTCAAGTTAAGACATATGTACACCAAGTGTTCCTATTTTAGACACAATGCCAAATAAAGAATGGCCTCTACAGATGAGTAGATCAATACTAGTAGCCTTAGGAGAATTTAAGGCCACATTACTGATGAGAAGAAAATTGAATTTGCCTTCAAATGCCATTTACAGAGTGTTCCTTCCCACACCTGCAATCAAAGCTAATAAAAGTTTAAAAGTTCAGTAATCGCCCAAGGACTTCTGGAAGATTATATGTTATGTGATTATCTTTTGGAAGAACATTTATTTCCTAATTGTGTTTTGCCTGGATAAACACCAGAAAGATAATTTGGCAAAAAAAAAAAAAAAAAAAGAAAGAAACAAAAACCCAGTAGCACAAATATATTCTCACAGCATGATTGGTTTAACCAGTATTTCATGATAATAAATTTCAATGTAGAAAAGTAACACTAGAAATATCAGGTGTACAACCGGAGAATTTTGAATCAGGTCTGTAGATTAGGTACTAGTATATCAATGTTAACTTCCTGATTTTGATAACTATACAAATTATTTAAGACTTTGTCTTTGTTTTTAAGACAAAGTTTTAAGACAAACTTGTAGTTAAGAACTACAACTGAATTATTAAGATATAAAGAAATATTATGTCTTTACGCACAAATGTCTCAGGAAAAAAATATATATATAACCATTTTATTGTGTTTGCTTTAGAGAGAGAATATAATAAAATGGTAACATTTGAGGAATCTCAGGGAAGGGCAGACAGACATTCTTCCCATTATTTTTTAACTTTTCTATAAAATGAAATTATTTTAAAATAAAAGAGTTAAACCTAACATTTGCATAATAGCACTTTCATTTACACATTCTACTTCCTAAATGATAAACCAATGGAAACAACTAGGTAAGGACTTGTGATCACTTGGACAAGAGCCACAATCCAAGTTTTCCATTCTTTCCTTTGACTTTTCTGATAAGAAAACTAGGCCAGGCATGTTGGCTCAAGCCTGAAATCTCAGCACTTTGGGAGGTTGAGGCAGGAAGATCACTTGAACCCAGGAGTTCGAGTCCAGCCTGGGCAACACAGTGGGACTCTGTCTCTACAAAAAATAAAGTAAAAAAATTGTCTGGACACAGTGGCTCACGTCTGTAATCCTAGCACTTTGAGGGCCAAGGTGGGAAGACTGCTGGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAGCTAGTCTCTACAAAAATAATTTTTTTTAATTAGCCAGAAGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGGACAGCTTAAGCACAGCAGGTCGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGAGACTGTCTCAAAAAAAAAAAAAAAAAAGGTAAAAAAAATTAGCTGGGAGTGATGGCATGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGTGAGAGGCTGCAGTGAGTTATGACTGCACCACCACACTCCAGCTTGGGTGACAGAGACAGATTCTGTTTCTAAGAAAAAAATAATAATAATAAAAAAGAAAACTAAATAATCTGAACAATGGTGAAAACCAAAATCATTTAAGAAATTTGTTTTCCAGACCTCAAAAATCCTTCATAGTCACTGACAATACACTAATTACAAAATTGTAACAATTACTAAAAATGAAACTAT
Task1_train_29992
A variant has been detected on Chromosome X in WNK3 (WNK lysine deficient protein kinase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Neurodevelopmental disorder
AATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGTCCCACCTACTCGGGAGGCTGTGGCAGAAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACATAATGAGACTCCATCTCAAAAAAAACAAAACAAAACGAAACAAAACAAAACAAAATGAAAAAACAATAAGTTGTCTCTAGCTGGAGAAATAACAAGTAATTTTTCACTTTCTTTTTCATAACTTTATGGGCTTTATTTTAAAATAAGCAAGTAACATTTTGATAATTAAATTTTTGGAACACATTTTAAAATACACATACCTGTATGCTTATGTAAATTGAACCTAAGTTAAATTTAAGCTCCCATTCAACACACTTTGCATTATAGGCTTAGAAAGAGGCAAATCAAACTACCACATGAGCTCAATTACAAATAGGCACCATATCACTTATAAATACTAGCCAAATATCTGGCATCTTCAACTATATCAAACTAAATCTACCCCTAGCAGATTTTAAATGCATCTGGCATTTGTCAAGTACATACATGCTTTCCCCTAAAAGACTGGGCTCTTTGAGGGCAAGGATCATGTTTATTTTATTTCATATCCCCAGAAGGTGGTAATCATTAAAAGTTTGATGATGAACTGATAATATACTAATCTCTTAAAAGATGCACCAGCAACTAGCTAAATCAGGCATTCTCTGTTAGCTAGCAGCTATTAGATCATCTCACTCCCAGAGAAGGAAGACAAACGCAAGGTATGGTGGGAGGTGAGAGGAGAAAACCGGGTAATGGCAAAGAAAAATGCAACCATGCATCCAGAATCCATAACCTAGGGAACCAGGATATAGTCTTAATATATAAACTCACACAAAGACTATTAACTCATTGTCAGAAATGAATAATGCTGACTTTAAGAGTCTGAAAGACAAAAACACTTCTTATTTCTCCTACAGAAATAAACATGAACCAAAACAAGTCAAGAGTTTAGATGAACATGCTAAAAATCATGAAAATCTATGAAACACTATTTCTAATTAACTGCAACAGACATCCTTCCATGTTCAAATCAGGCTGGAAAAGTTTAATACAAAGAACAAATAATCATGAATAAGAGGAAGAGATCAGTCCTAAATAAATCTTTTGTCCATATATACTGAGTTCTCTGTTTCTTCTCCAATTATACAAGCAGTATCTCAAGATTCTAGTTACACAATATTAGACACATTAAGAGGAACATCTTGGGCCGGGTACTGTGGCTCATGTCTGTTATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAACCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCGGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCGACACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAGGAATGTCTTGGGTGAAGGAAAGCATAAACAACTTTTAGCTTTTGGTGACCTTTCTCTAAACTATAATGAATTTATAAAAGAGAACTTTTGCCTGTCAGAAAATCTAGGCAGTGTTTAATTTGTTTAAATGAATACAGAACCTCTAAAATGTGTCTTACCTTTATCTGTGGGACCTTCTGAACAGTTAATGGGGAAACCTGGGGTTGTGAAACAACTGTCGGTCCAAGGACATGTACAGGTAAAACAGTGGACTGACCTTGAACCAAAGGCAAAATCTGCGGCTGAGTCAGCTTTGAATGCTTCTGTAACTGTTAAAATAAGGGGAAAAAAAGATTAAAGATAAACTTTCCCATTTACAGTAAATACACTGATTATATATTTAAAAATATAACAGTTCACCTCACCCCTGAAACTTGCTGGTAATGTCCTACTAGTTGCTGAGATGAATAAATTTGCCCTGGAACATTTACTTCAGCCTGCGGGATATTAGAAACCATTTGAGAGCCCATCGTTTGATTTGAGGAATAGGCTACACTGGGCTGACTTGAAGTATCTGAATGTATAACTGATGCAGCTCCTGCCTCAGACAAATTGTCACCTATAAAAAAAGAAAATAAGTAACAGGTAGAAGGGAAAACTTGAAGCACAAAATGTCCAAATGGTATAGGTAATGGTGTTTCTTTAATGGCTTTTTTACTCTGAGAACCTGACATAGCTTCAAATAAAATATTTACACTACAACATTAATCAAAAACCAGCATGTAAACTCTTATCAAGCAATGAAATGTTGACATTGTGGTATAACTAAAATTTTCTTAGTAAAGCCAACCTAAAAACAGAGAATCAGATAAAAATCAACTCCATTTGCTGGCCATGTCATGTATATCCCTAACTAATCTACACTTGACATAAGGATTTCAGTAAAATATATCATATTCTCTTTCTCCTATAACCTAGAATACTGTCTTTGTAGAACAATAGGTTATTACTATGCAAATACTGTGTCCTTCTGGAAAAGAAAATGCATTACAGCAGAAAATTAGAGGAATTGTGTTAATGTTACACTTGAGCCTAAAATACAAAGGGTCTTAAAGACTAGAAAATTCCTTCTTGAGGAATAAATTTTATCTTTAGTTCTAAATTTTCTTTATTAAACGATGTACGTGGCTGGGCGCGGTGGCTCATGCCTACAATCCCAACACTTTGGGAGGCTGAGGCGGGTAGATGGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACCAAAAGAAAATACAAAAATTAGCCAGGTGTAGTGGCACGCACTTGTAGTCCCAGCTACTCAGGGGGCTGAGGTGGGAGGATCACCTGAGCCTGGGGAGGTCGAGGCTGCAGTGAATCATGATCACACCACTGCACTCCAGCCTAGGTGACAGAGCAAGGCCCTGTCTCAAAAAAAAGAAAGGATTTATGTTAGACCCTCAAAAATGATAATAAGATCATTTTATTTATACCCCAAACAAAACCAGATGCTAGATTATGATCCTTCTGCAACTAGCACCTTAGAAGAATCACTTAACAAAACAGTTTCTTAATTTTAAAATAAGGAAACTAGCTGGCTTGTCTATTTCAGGGGTTTTGTAAAAGGCTTGATGAAATGATAGAAGTGCTATTTAGAGCACAGAAGTGCTATTTAAAGATAAGCAAACATACAAAAAGGAAAAGAAACAAAATAGGTCATTGACCACTGCCCTTCAAAATAAATAAAGATTAGAGAATATAATTGCACATGCGTTTGCTTTTACAAGCTGTAACTGTGTTACCTGTAACAGAGGAGCAGTGCTGCTGTGGTTTTCTTTGTAGAAGCTGTTGTCTAACATGTTGATCAACTTCAGTTTCTTCACATTCAGCCCCAGTTTGCTGAGCGGGAGCAAGGGGTAAAGTTGTATTCTGGGGCTGAGGGAATACATTCCCCATAGACTTGCACTGAGAATCCCTGCGTTCTTCCAAACAGCCAGCAGGCTTCTTCTCTCTTGTCTTCTTTATTGGCGTCACCCGGTCTCTAATGGATTTAGCAACAGCTTTGGAATCACTTTCATGGAAGAACCCAGACTTGACCTACAAACAAAACATAATAAGCAAACTACTTCTTTAACATTTAAGATTTTAACTTTTTTTTTTTTTTTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTCTGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAATTCCTGACGTCGTGATCCACCGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCATGAGCCACCGCGCCCGGCCAATTTTAACTTTTTTTTTTTTTACTAGCAGTTATTTTATGCCCCCAAATTCCA
AATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGTCCCACCTACTCGGGAGGCTGTGGCAGAAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACATAATGAGACTCCATCTCAAAAAAAACAAAACAAAACGAAACAAAACAAAACAAAATGAAAAAACAATAAGTTGTCTCTAGCTGGAGAAATAACAAGTAATTTTTCACTTTCTTTTTCATAACTTTATGGGCTTTATTTTAAAATAAGCAAGTAACATTTTGATAATTAAATTTTTGGAACACATTTTAAAATACACATACCTGTATGCTTATGTAAATTGAACCTAAGTTAAATTTAAGCTCCCATTCAACACACTTTGCATTATAGGCTTAGAAAGAGGCAAATCAAACTACCACATGAGCTCAATTACAAATAGGCACCATATCACTTATAAATACTAGCCAAATATCTGGCATCTTCAACTATATCAAACTAAATCTACCCCTAGCAGATTTTAAATGCATCTGGCATTTGTCAAGTACATACATGCTTTCCCCTAAAAGACTGGGCTCTTTGAGGGCAAGGATCATGTTTATTTTATTTCATATCCCCAGAAGGTGGTAATCATTAAAAGTTTGATGATGAACTGATAATATACTAATCTCTTAAAAGATGCACCAGCAACTAGCTAAATCAGGCATTCTCTGTTAGCTAGCAGCTATTAGATCATCTCACTCCCAGAGAAGGAAGACAAACGCAAGGTATGGTGGGAGGTGAGAGGAGAAAACCGGGTAATGGCAAAGAAAAATGCAACCATGCATCCAGAATCCATAACCTAGGGAACCAGGATATAGTCTTAATATATAAACTCACACAAAGACTATTAACTCATTGTCAGAAATGAATAATGCTGACTTTAAGAGTCTGAAAGACAAAAACACTTCTTATTTCTCCTACAGAAATAAACATGAACCAAAACAAGTCAAGAGTTTAGATGAACATGCTAAAAATCATGAAAATCTATGAAACACTATTTCTAATTAACTGCAACAGACATCCTTCCATGTTCAAATCAGGCTGGAAAAGTTTAATACAAAGAACAAATAATCATGAATAAGAGGAAGAGATCAGTCCTAAATAAATCTTTTGTCCATATATACTGAGTTCTCTGTTTCTTCTCCAATTATACAAGCAGTATCTCAAGATTCTAGTTACACAATATTAGACACATTAAGAGGAACATCTTGGGCCGGGTACTGTGGCTCATGTCTGTTATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAACCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCGGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCGACACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAGGAATGTCTTGGGTGAAGGAAAGCATAAACAACTTTTAGCTTTTGGTGACCTTTCTCTAAACTATAATGAATTTATAAAAGAGAACTTTTGCCTGTCAGAAAATCTAGGCAGTGTTTAATTTGTTTAAATGAATACAGAACCTCTAAAATGTGTCTTACCTTTATCTGTGGGACCTTCTGAACAGTTAATGGGGAAACCTGGGGTTGTGAAACAACTGTCGGTCCAAGGACATGTACAGGTAAAACAGTGGACTGACCTTGAACCAAAGGCAAAATCTGCGGCTGAGTCAGCTTTGAATGCTTCTGTAACTGTTAAAATAAGGGGAAAAAAAGATTAAAGATAAACTTTCCCATTTACAGTAAATACACTGATTATATATTTAAAAATATAACAGTTCACCTCACCCCTGAAACTTGCTGGTAATGTCCTACTAGTTGCTGAGATGAATAAATTTGCCCTGGAACATTTACTACAGCCTGCGGGATATTAGAAACCATTTGAGAGCCCATCGTTTGATTTGAGGAATAGGCTACACTGGGCTGACTTGAAGTATCTGAATGTATAACTGATGCAGCTCCTGCCTCAGACAAATTGTCACCTATAAAAAAAGAAAATAAGTAACAGGTAGAAGGGAAAACTTGAAGCACAAAATGTCCAAATGGTATAGGTAATGGTGTTTCTTTAATGGCTTTTTTACTCTGAGAACCTGACATAGCTTCAAATAAAATATTTACACTACAACATTAATCAAAAACCAGCATGTAAACTCTTATCAAGCAATGAAATGTTGACATTGTGGTATAACTAAAATTTTCTTAGTAAAGCCAACCTAAAAACAGAGAATCAGATAAAAATCAACTCCATTTGCTGGCCATGTCATGTATATCCCTAACTAATCTACACTTGACATAAGGATTTCAGTAAAATATATCATATTCTCTTTCTCCTATAACCTAGAATACTGTCTTTGTAGAACAATAGGTTATTACTATGCAAATACTGTGTCCTTCTGGAAAAGAAAATGCATTACAGCAGAAAATTAGAGGAATTGTGTTAATGTTACACTTGAGCCTAAAATACAAAGGGTCTTAAAGACTAGAAAATTCCTTCTTGAGGAATAAATTTTATCTTTAGTTCTAAATTTTCTTTATTAAACGATGTACGTGGCTGGGCGCGGTGGCTCATGCCTACAATCCCAACACTTTGGGAGGCTGAGGCGGGTAGATGGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACCAAAAGAAAATACAAAAATTAGCCAGGTGTAGTGGCACGCACTTGTAGTCCCAGCTACTCAGGGGGCTGAGGTGGGAGGATCACCTGAGCCTGGGGAGGTCGAGGCTGCAGTGAATCATGATCACACCACTGCACTCCAGCCTAGGTGACAGAGCAAGGCCCTGTCTCAAAAAAAAGAAAGGATTTATGTTAGACCCTCAAAAATGATAATAAGATCATTTTATTTATACCCCAAACAAAACCAGATGCTAGATTATGATCCTTCTGCAACTAGCACCTTAGAAGAATCACTTAACAAAACAGTTTCTTAATTTTAAAATAAGGAAACTAGCTGGCTTGTCTATTTCAGGGGTTTTGTAAAAGGCTTGATGAAATGATAGAAGTGCTATTTAGAGCACAGAAGTGCTATTTAAAGATAAGCAAACATACAAAAAGGAAAAGAAACAAAATAGGTCATTGACCACTGCCCTTCAAAATAAATAAAGATTAGAGAATATAATTGCACATGCGTTTGCTTTTACAAGCTGTAACTGTGTTACCTGTAACAGAGGAGCAGTGCTGCTGTGGTTTTCTTTGTAGAAGCTGTTGTCTAACATGTTGATCAACTTCAGTTTCTTCACATTCAGCCCCAGTTTGCTGAGCGGGAGCAAGGGGTAAAGTTGTATTCTGGGGCTGAGGGAATACATTCCCCATAGACTTGCACTGAGAATCCCTGCGTTCTTCCAAACAGCCAGCAGGCTTCTTCTCTCTTGTCTTCTTTATTGGCGTCACCCGGTCTCTAATGGATTTAGCAACAGCTTTGGAATCACTTTCATGGAAGAACCCAGACTTGACCTACAAACAAAACATAATAAGCAAACTACTTCTTTAACATTTAAGATTTTAACTTTTTTTTTTTTTTTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTCTGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAATTCCTGACGTCGTGATCCACCGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCATGAGCCACCGCGCCCGGCCAATTTTAACTTTTTTTTTTTTTACTAGCAGTTATTTTATGCCCCCAAATTCCA
Task1_train_29993
This variant impacts the gene WNK3 (WNK lysine deficient protein kinase 3) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Prieto syndrome
TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCATCCTCTTATTTTATAGTCATTTGTGAATTTATATTATTCCCTTATTAGAAATGTAAGCTCTTTAGGGTAGCAAACACTTCTTACTCATGTTTGCATTCCTTACAATTTCTAACACAAAAATTTACTCATAGCAGGGACCCAAATACTGTATCTATTGAACTATATTTTGAATGCCCTTTCATAAAAAGGCTTTTAGACCTAGAAGAAACCATGTAGTCGGTCTCTATTATTCAGCTTTGAAAAATAAGATCCATCTAATAGATAACTAAAAATTCCTTACAAACAAATATATATAGATGATATACCTGTACATTTTCCCAAAGATACTAATACAGAGCATTTTATATGACTCCAATGAAGCATAGTCATATGGTATAAATCTAAGGCTTGTTGCATTACAATTGTTAATTTTAATACTGTTACCTAGAGCTAAACCAAAATTAGTTTTGAGTAAGTCAAACTTAACTAATTTCAACATGAAACGTGGCAACTGATAAAGTAAAAAGAAAAAAGTTATACCTACACTAGTTACTTTCCGGTATATTTGAGCTGCATTCTGACACTCAGAATAAGGATACTCCGATGTGGCCATTTCCAGCATACACATTCCAAAAGCATAAACATCTACGGATTCATCATAGTGTTCTTCATACATCTCTGGAGCCATAAACTCAGGAGTTCCTACAAAATAACACCACCACCACATTCTTATAGAAGAGAAAAACGTATCCACCAAGATCACATCCCCTTTCCTATAAGGATTATCTGTGTTAATTTCTACTCCCCCAAAGCAAATTTCTTTTTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAAGCGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCATGCCTGGCCGCAAATTTTTAAGTATACAATTTGTTGAATATTTGCTATATCTACATAAAGCACTGAAATAATTTATTTAATTTTCCATACTGATAGAGTGTAATTTGTAATGCTCAAGATTAGGTAACGATTAATAAAATGTTTTTATTTCTATCCTTTTTACTTAAATTTTTCTGAATTAACTTAATAAACTCTCTTACTTACATCCTTAGAACCTTTCAATAATCCTAAATATAAATTATTATCCCACAAAAAATACATTAGGATGTCTCTGAAAAAAGCCAATATATAATAGGTATTTCAAAGCAAATTCAGTCTAAGCCCAGTATTGGCAAACTTTTCTGTTAAGGGCCAGATAGTAAACTGTTTAGGTTTTGCAGTTTGTATGGTCTCTGTCACACAACTACTCAACTCTGTCACTTGTAGGTGCAAAAGCAGTCCTAGACAATCTGTAAATGAGTGAGTGTGACTGTGTTCTAATAAAATTCGATTTACAAAAACAGGCAGTGAGCCACATTCATCCCACTGGCCATAGCTGGCTGATTCCTGTTCTAGACCTATACAATTGAAAAATCTCTCTTTACCCAACCAGTAAACTGTAAAACTTTAATCACCAATGACACTCTTAGCAAATGAGGTACGCATTAAGGTGGCTAATCCTAGATCACCAATCTTCACAGATCCAGTGGGTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCC
TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCATCCTCTTATTTTATAGTCATTTGTGAATTTATATTATTCCCTTATTAGAAATGTAAGCTCTTTAGGGTAGCAAACACTTCTTACTCATGTTTGCATTCCTTACAATTTCTAACACAAAAATTTACTCATAGCAGGGACCCAAATACTGTATCTATTGAACTATATTTTGAATGCCCTTTCATAAAAAGGCTTTTAGACCTAGAAGAAACCATGTAGTCGGTCTCTATTATTCAGCTTTGAAAAATAAGATCCATCTAATAGATAACTAAAAATTCCTTACAAACAAATATATATAGATGATATACCTGTACATTTTCCCAAAGATACTAATACAGAGCATTTTATATGACTCCAATGAAGCATAGTCATATGGTATAAATCTAAGGCTTGTTGCATTACAATTGTTAATTTTAATACTGTTACCTAGAGCTAAACCAAAATTAGTTTTGAGTAAGTCAAACTTAACTAATTTCAACATGAAACGTGGCAACTGATAAAGTAAAAAGAAAAAAGTTATACCTACACTAGTTACTTTCCGGTATATTTGAGCTGCATTCTGACACTCAGAATAAGGATACTCCGATGTGGCCATTTCCAGCATACACATTCCAAAAGCATAAACATCTACGGATTCATCATAGTGTTCTTCATACATCTCTGGAGCCATAAACTCAGGAGTTCCTACAAAATAACACCACCACCACATTCTTATAGAAGAGAAAAACGTATCCACCAAGATCACATCCCCTTTCCTATAAGGATTATCTGTGTTAATTTCTACTCCCCCAAAGCAAATTTCTTTTTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAAGCGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCATGCCTGGCCGCAAATTTTTAAGTATACAATTTGTTGAATATTTGCTATATCTACATAAAGCACTGAAATAATTTATTTAATTTTCCATACTGATAGAGTGTAATTTGTAATGCTCAAGATTAGGTAACGATTAATAAAATGTTTTTATTTCTATCCTTTTTACTTAAATTTTTCTGAATTAACTTAATAAACTCTCTTACTTACATCCTTAGAACCTTTCAATAATCCTAAATATAAATTATTATCCCACAAAAAATACATTAGGATGTCTCTGAAAAAAGCCAATATATAATAGGTATTTCAAAGCAAATTCAGTCTAAGCCCAGTATTGGCAAACTTTTCTGTTAAGGGCCAGATAGTAAACTGTTTAGGTTTTGCAGTTTGTATGGTCTCTGTCACACAACTACTCAACTCTGTCACTTGTAGGTGCAAAAGCAGTCCTAGACAATCTGTAAATGAGTGAGTGTGACTGTGTTCTAATAAAATTCGATTTACAAAAACAGGCAGTGAGCCACATTCATCCCACTGGCCATAGCTGGCTGATTCCTGTTCTAGACCTATACAATTGAAAAATCTCTCTTTACCCAACCAGTAAACTGTAAAACTTTAATCACCAATGACACTCTTAGCAAATGAGGTACGCATTGAGGTGGCTAATCCTAGATCACCAATCTTCACAGATCCAGTGGGTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCC
Task1_train_29994
The gene WNK3 (WNK lysine deficient protein kinase 3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Neurodevelopmental disorder
TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCATCCTCTTATTTTATAGTCATTTGTGAATTTATATTATTCCCTTATTAGAAATGTAAGCTCTTTAGGGTAGCAAACACTTCTTACTCATGTTTGCATTCCTTACAATTTCTAACACAAAAATTTACTCATAGCAGGGACCCAAATACTGTATCTATTGAACTATATTTTGAATGCCCTTTCATAAAAAGGCTTTTAGACCTAGAAGAAACCATGTAGTCGGTCTCTATTATTCAGCTTTGAAAAATAAGATCCATCTAATAGATAACTAAAAATTCCTTACAAACAAATATATATAGATGATATACCTGTACATTTTCCCAAAGATACTAATACAGAGCATTTTATATGACTCCAATGAAGCATAGTCATATGGTATAAATCTAAGGCTTGTTGCATTACAATTGTTAATTTTAATACTGTTACCTAGAGCTAAACCAAAATTAGTTTTGAGTAAGTCAAACTTAACTAATTTCAACATGAAACGTGGCAACTGATAAAGTAAAAAGAAAAAAGTTATACCTACACTAGTTACTTTCCGGTATATTTGAGCTGCATTCTGACACTCAGAATAAGGATACTCCGATGTGGCCATTTCCAGCATACACATTCCAAAAGCATAAACATCTACGGATTCATCATAGTGTTCTTCATACATCTCTGGAGCCATAAACTCAGGAGTTCCTACAAAATAACACCACCACCACATTCTTATAGAAGAGAAAAACGTATCCACCAAGATCACATCCCCTTTCCTATAAGGATTATCTGTGTTAATTTCTACTCCCCCAAAGCAAATTTCTTTTTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAAGCGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCATGCCTGGCCGCAAATTTTTAAGTATACAATTTGTTGAATATTTGCTATATCTACATAAAGCACTGAAATAATTTATTTAATTTTCCATACTGATAGAGTGTAATTTGTAATGCTCAAGATTAGGTAACGATTAATAAAATGTTTTTATTTCTATCCTTTTTACTTAAATTTTTCTGAATTAACTTAATAAACTCTCTTACTTACATCCTTAGAACCTTTCAATAATCCTAAATATAAATTATTATCCCACAAAAAATACATTAGGATGTCTCTGAAAAAAGCCAATATATAATAGGTATTTCAAAGCAAATTCAGTCTAAGCCCAGTATTGGCAAACTTTTCTGTTAAGGGCCAGATAGTAAACTGTTTAGGTTTTGCAGTTTGTATGGTCTCTGTCACACAACTACTCAACTCTGTCACTTGTAGGTGCAAAAGCAGTCCTAGACAATCTGTAAATGAGTGAGTGTGACTGTGTTCTAATAAAATTCGATTTACAAAAACAGGCAGTGAGCCACATTCATCCCACTGGCCATAGCTGGCTGATTCCTGTTCTAGACCTATACAATTGAAAAATCTCTCTTTACCCAACCAGTAAACTGTAAAACTTTAATCACCAATGACACTCTTAGCAAATGAGGTACGCATTAAGGTGGCTAATCCTAGATCACCAATCTTCACAGATCCAGTGGGTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCC
TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCATCCTCTTATTTTATAGTCATTTGTGAATTTATATTATTCCCTTATTAGAAATGTAAGCTCTTTAGGGTAGCAAACACTTCTTACTCATGTTTGCATTCCTTACAATTTCTAACACAAAAATTTACTCATAGCAGGGACCCAAATACTGTATCTATTGAACTATATTTTGAATGCCCTTTCATAAAAAGGCTTTTAGACCTAGAAGAAACCATGTAGTCGGTCTCTATTATTCAGCTTTGAAAAATAAGATCCATCTAATAGATAACTAAAAATTCCTTACAAACAAATATATATAGATGATATACCTGTACATTTTCCCAAAGATACTAATACAGAGCATTTTATATGACTCCAATGAAGCATAGTCATATGGTATAAATCTAAGGCTTGTTGCATTACAATTGTTAATTTTAATACTGTTACCTAGAGCTAAACCAAAATTAGTTTTGAGTAAGTCAAACTTAACTAATTTCAACATGAAACGTGGCAACTGATAAAGTAAAAAGAAAAAAGTTATACCTACACTAGTTACTTTCCGGTATATTTGAGCTGCATTCTGACACTCAGAATAAGGATACTCCGATGTGGCCATTTCCAGCATACACATTCCAAAAGCATAAACATCTACGGATTCATCATAGTGTTCTTCATACATCTCTGGAGCCATAAACTCAGGAGTTCCTACAAAATAACACCACCACCACATTCTTATAGAAGAGAAAAACGTATCCACCAAGATCACATCCCCTTTCCTATAAGGATTATCTGTGTTAATTTCTACTCCCCCAAAGCAAATTTCTTTTTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAAGCGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCATGCCTGGCCGCAAATTTTTAAGTATACAATTTGTTGAATATTTGCTATATCTACATAAAGCACTGAAATAATTTATTTAATTTTCCATACTGATAGAGTGTAATTTGTAATGCTCAAGATTAGGTAACGATTAATAAAATGTTTTTATTTCTATCCTTTTTACTTAAATTTTTCTGAATTAACTTAATAAACTCTCTTACTTACATCCTTAGAACCTTTCAATAATCCTAAATATAAATTATTATCCCACAAAAAATACATTAGGATGTCTCTGAAAAAAGCCAATATATAATAGGTATTTCAAAGCAAATTCAGTCTAAGCCCAGTATTGGCAAACTTTTCTGTTAAGGGCCAGATAGTAAACTGTTTAGGTTTTGCAGTTTGTATGGTCTCTGTCACACAACTACTCAACTCTGTCACTTGTAGGTGCAAAAGCAGTCCTAGACAATCTGTAAATGAGTGAGTGTGACTGTGTTCTAATAAAATTCGATTTACAAAAACAGGCAGTGAGCCACATTCATCCCACTGGCCATAGCTGGCTGATTCCTGTTCTAGACCTATACAATTGAAAAATCTCTCTTTACCCAACCAGTAAACTGTAAAACTTTAATCACCAATGACACTCTTAGCAAATGAGGTACGCATTGAGGTGGCTAATCCTAGATCACCAATCTTCACAGATCCAGTGGGTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCC
Task1_train_29995
Here is a mutation in WNK3 (WNK lysine deficient protein kinase 3) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Prieto syndrome
GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCCTTTTAATATAGATTCCCAGGAATCATAAAATCGAACTATATTGGGGTGCTGGAGACCCTTCAACATCTCTGCTTCTTCCTTGAATCTTTGCTGCTCAGCTTTGGTTAACTTTCGGTCCTGAAAAGGAATAACAAGTTCCAAAATAAAGTCATGAAAATTCTCATGCACATTTCTAATACCACTCAACTGAATGCTTTATTGCATATATGCATGGATGTGTATATTTATTTATTTTTGCCTGTCAATGCTTTTCTCAAGACTTGTATCATCACAGATATCCTTTATTAGCTACTGTGACTCCTCCAACATGGCAATGCAGCACTATTATATTTCATAAGTACATTATAAACCCACCTGGGTAATAAATCAGTATCTTGAAAAACAGTATCTCAAAATGAATTGAGAAAAAGCAATAAAGCAGATAGGAAAGTTTCCCTAAGAAATCCCTGAGTTTCCATATCTAAAACATCTGTAATGTCAGAACAAGAACAATAAAAATGTTAAACATCTAGACATTTAATCTAATTAAATTTCTGAATTGCCAAAATAAAAGTGCTCTAGGTTTCCATACAGAAATATTAGTTTATGAACCAGTGAGACATTCAAATAGGCATTGGACCTCTAATCTGCTACATTAACTGCTAGAAGTCAAAGGAACAATTTTACAGAATTCTGAGGGAGAACTATGGCCCTAAAATTCTGATCCCAGACAAGCTATCCATCAAGTTTAAAAGTGAAAAAATCCTACATTTCTAGACAACAGGGACACAGACAGTACACCACCCCATACACCGTCTCTGACCATATTACTCAAAGAACTTCAATAAAAATTTGGACACAAAAAGTTAGAAAAGGAAGGTATGGGCTGGGCACGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGAGCACCTGAGCCCAGTTCGAGACCAGCATGGCTAACATAGTGAGACCCCCGTCTCTACAAAAAAATAATAATAAAAACAACAGCTGGGTGTGGTGGTGCATGTTTATAGTCCCTAACTACTCGAGAGGGTAAGGTGGGAGGATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTTGGTGACGGAGTGAGACCCTGTCTCAAAAAAATTAAATTAAAATAACAAAATGTTAGAAAAATTTTGTTATCAAAGTTGTACATGACATTATCTTCTAATTTCTTTTATTCTCTTTCATAGCATGCTATGTTTTATTTCTCATTCCTTTTTTTTCTAGACGGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAACCTCTGCTTCCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTTGACCTGAAGTGATCCACTTGCCTCGGCCTCCTCCCAAAGTGCTGGGACTACAGGAGTGAGCTATTGCGCCCGGCCTTCTCATTCCTTTCCTTGTGTATTTCTGCCCTATTTTCTTCATCAGGTACATTAATCGTTTTTCAGAAAGCCCAAAATAATAAAATCTATTTATCCTATTTTTATGTATATAAATTTTAAATTAATTTCAGTTTTTCTGAATTCCCTCTTCCTTTCTTTTGCTGTTATTTTCCTAATTTCTTAACATGAGTACTAAATTCCTTTAGTTATTGTTCATTAATAATGAAGATATTTTAGGCTATAAATTTTCTAACAGGTACAACTTTTGCAATGACCCACAGGTTTTGTTGTAATGTCTTCTCTTTTTCATTGCTTTCTAGTTTATAATTTTCATTTTCATTTTCATTTTCAGTTTTCAGTTTCTCTTTGATTCAAAATTTACCTAGGAATGTGATTTCTGCTCTCTAATTAGTTAAGAATCTTTTGGTTATTTATTTCATTATTTATTTCTAATCTTATTGAGTAATGCAAGTACAAAATCTCTCTGCTTTAACTTAAGGGTTTTTGGGGGCCACATATAACAAT
GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCCTTTTAATATAGATTCCCAGGAATCATAAAATCGAACTATATTGCGGTGCTGGAGACCCTTCAACATCTCTGCTTCTTCCTTGAATCTTTGCTGCTCAGCTTTGGTTAACTTTCGGTCCTGAAAAGGAATAACAAGTTCCAAAATAAAGTCATGAAAATTCTCATGCACATTTCTAATACCACTCAACTGAATGCTTTATTGCATATATGCATGGATGTGTATATTTATTTATTTTTGCCTGTCAATGCTTTTCTCAAGACTTGTATCATCACAGATATCCTTTATTAGCTACTGTGACTCCTCCAACATGGCAATGCAGCACTATTATATTTCATAAGTACATTATAAACCCACCTGGGTAATAAATCAGTATCTTGAAAAACAGTATCTCAAAATGAATTGAGAAAAAGCAATAAAGCAGATAGGAAAGTTTCCCTAAGAAATCCCTGAGTTTCCATATCTAAAACATCTGTAATGTCAGAACAAGAACAATAAAAATGTTAAACATCTAGACATTTAATCTAATTAAATTTCTGAATTGCCAAAATAAAAGTGCTCTAGGTTTCCATACAGAAATATTAGTTTATGAACCAGTGAGACATTCAAATAGGCATTGGACCTCTAATCTGCTACATTAACTGCTAGAAGTCAAAGGAACAATTTTACAGAATTCTGAGGGAGAACTATGGCCCTAAAATTCTGATCCCAGACAAGCTATCCATCAAGTTTAAAAGTGAAAAAATCCTACATTTCTAGACAACAGGGACACAGACAGTACACCACCCCATACACCGTCTCTGACCATATTACTCAAAGAACTTCAATAAAAATTTGGACACAAAAAGTTAGAAAAGGAAGGTATGGGCTGGGCACGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGAGCACCTGAGCCCAGTTCGAGACCAGCATGGCTAACATAGTGAGACCCCCGTCTCTACAAAAAAATAATAATAAAAACAACAGCTGGGTGTGGTGGTGCATGTTTATAGTCCCTAACTACTCGAGAGGGTAAGGTGGGAGGATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTTGGTGACGGAGTGAGACCCTGTCTCAAAAAAATTAAATTAAAATAACAAAATGTTAGAAAAATTTTGTTATCAAAGTTGTACATGACATTATCTTCTAATTTCTTTTATTCTCTTTCATAGCATGCTATGTTTTATTTCTCATTCCTTTTTTTTCTAGACGGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAACCTCTGCTTCCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTTGACCTGAAGTGATCCACTTGCCTCGGCCTCCTCCCAAAGTGCTGGGACTACAGGAGTGAGCTATTGCGCCCGGCCTTCTCATTCCTTTCCTTGTGTATTTCTGCCCTATTTTCTTCATCAGGTACATTAATCGTTTTTCAGAAAGCCCAAAATAATAAAATCTATTTATCCTATTTTTATGTATATAAATTTTAAATTAATTTCAGTTTTTCTGAATTCCCTCTTCCTTTCTTTTGCTGTTATTTTCCTAATTTCTTAACATGAGTACTAAATTCCTTTAGTTATTGTTCATTAATAATGAAGATATTTTAGGCTATAAATTTTCTAACAGGTACAACTTTTGCAATGACCCACAGGTTTTGTTGTAATGTCTTCTCTTTTTCATTGCTTTCTAGTTTATAATTTTCATTTTCATTTTCATTTTCAGTTTTCAGTTTCTCTTTGATTCAAAATTTACCTAGGAATGTGATTTCTGCTCTCTAATTAGTTAAGAATCTTTTGGTTATTTATTTCATTATTTATTTCTAATCTTATTGAGTAATGCAAGTACAAAATCTCTCTGCTTTAACTTAAGGGTTTTTGGGGGCCACATATAACAAT
Task1_train_29996
This alteration occurs within gene WNK3 (WNK lysine deficient protein kinase 3) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder
GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCCTTTTAATATAGATTCCCAGGAATCATAAAATCGAACTATATTGGGGTGCTGGAGACCCTTCAACATCTCTGCTTCTTCCTTGAATCTTTGCTGCTCAGCTTTGGTTAACTTTCGGTCCTGAAAAGGAATAACAAGTTCCAAAATAAAGTCATGAAAATTCTCATGCACATTTCTAATACCACTCAACTGAATGCTTTATTGCATATATGCATGGATGTGTATATTTATTTATTTTTGCCTGTCAATGCTTTTCTCAAGACTTGTATCATCACAGATATCCTTTATTAGCTACTGTGACTCCTCCAACATGGCAATGCAGCACTATTATATTTCATAAGTACATTATAAACCCACCTGGGTAATAAATCAGTATCTTGAAAAACAGTATCTCAAAATGAATTGAGAAAAAGCAATAAAGCAGATAGGAAAGTTTCCCTAAGAAATCCCTGAGTTTCCATATCTAAAACATCTGTAATGTCAGAACAAGAACAATAAAAATGTTAAACATCTAGACATTTAATCTAATTAAATTTCTGAATTGCCAAAATAAAAGTGCTCTAGGTTTCCATACAGAAATATTAGTTTATGAACCAGTGAGACATTCAAATAGGCATTGGACCTCTAATCTGCTACATTAACTGCTAGAAGTCAAAGGAACAATTTTACAGAATTCTGAGGGAGAACTATGGCCCTAAAATTCTGATCCCAGACAAGCTATCCATCAAGTTTAAAAGTGAAAAAATCCTACATTTCTAGACAACAGGGACACAGACAGTACACCACCCCATACACCGTCTCTGACCATATTACTCAAAGAACTTCAATAAAAATTTGGACACAAAAAGTTAGAAAAGGAAGGTATGGGCTGGGCACGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGAGCACCTGAGCCCAGTTCGAGACCAGCATGGCTAACATAGTGAGACCCCCGTCTCTACAAAAAAATAATAATAAAAACAACAGCTGGGTGTGGTGGTGCATGTTTATAGTCCCTAACTACTCGAGAGGGTAAGGTGGGAGGATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTTGGTGACGGAGTGAGACCCTGTCTCAAAAAAATTAAATTAAAATAACAAAATGTTAGAAAAATTTTGTTATCAAAGTTGTACATGACATTATCTTCTAATTTCTTTTATTCTCTTTCATAGCATGCTATGTTTTATTTCTCATTCCTTTTTTTTCTAGACGGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAACCTCTGCTTCCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTTGACCTGAAGTGATCCACTTGCCTCGGCCTCCTCCCAAAGTGCTGGGACTACAGGAGTGAGCTATTGCGCCCGGCCTTCTCATTCCTTTCCTTGTGTATTTCTGCCCTATTTTCTTCATCAGGTACATTAATCGTTTTTCAGAAAGCCCAAAATAATAAAATCTATTTATCCTATTTTTATGTATATAAATTTTAAATTAATTTCAGTTTTTCTGAATTCCCTCTTCCTTTCTTTTGCTGTTATTTTCCTAATTTCTTAACATGAGTACTAAATTCCTTTAGTTATTGTTCATTAATAATGAAGATATTTTAGGCTATAAATTTTCTAACAGGTACAACTTTTGCAATGACCCACAGGTTTTGTTGTAATGTCTTCTCTTTTTCATTGCTTTCTAGTTTATAATTTTCATTTTCATTTTCATTTTCAGTTTTCAGTTTCTCTTTGATTCAAAATTTACCTAGGAATGTGATTTCTGCTCTCTAATTAGTTAAGAATCTTTTGGTTATTTATTTCATTATTTATTTCTAATCTTATTGAGTAATGCAAGTACAAAATCTCTCTGCTTTAACTTAAGGGTTTTTGGGGGCCACATATAACAAT
GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAGATAAGACATCCTACCAAGCATAGCTGTTTTGTTTGTTTGGTTGGTTGGTTGGTTTTTTTTTAAGACGAAGTCTCACTCTGTCTCCCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCGCCTCCCAGGTTCATGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACGCCAAGCTAATTTTTGCATTTTGGCATAGACGGGGTTTCACCATGTGGGCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATGACAGGCATCAGCCACCACACTTAGCCAAGTGTAGCATTTTTAATTCAAACTAAAAATCATTCCAGAGTGGCCTTTTGTAGAATGGCAGCACAATTTTAAAAAGAAAGTCCTTCTCTACTACCTAATAACTGCTTATATAAAGTCACTAGAGGGTTAAACTATGTAAAATTTTAGTATATACACAAATGTTAGGAAACAAAAAGTTTATACCATATTTAATATTTGCAAGTGATTAAACCACATTTAATATTTACAAGTCATTATTCACCAAATGAATAATTGTGGTTAGAAATAAAAGACTATAATTAATAGTCTATAATACTATAATATTATACTATATAATACTATAATAATATACTATAATACTATAATATCATAATAGTATCGCTCACTAGATATTTGAACTTGACCAAGCCCTCCAACCTTCCATTATCTTCTACAAAATAAAATTATGGCCGGGCATGCTGCCTCACTCCTATAACCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTTAGCCCAGGAATTCGAGACCAGCCTGGGCAACACGGCGAAACCCCATCTCTACAAAAATTATTTTTAAAAAAATTAGCCAGGCATGTTGCTGCATGCTTGTGGTTCCAGCTACTCAGTAGGCTGAGGTGGGAGGGTCACTTGAGCCCAAGGAGGTCGAAGCTGCAGTTAGCCATGATCATGCCACTGCACCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCCCAAAAAATAATAAAATAAAATAAAATAAAATAAAATTATATTCTCTATAATAGATTTTTAATTCTAAAATTCTATAATATCCCACAAACATTAACTTCTCAGTACTGTATTTTTTTAACAAACTTCATTAACATCTCAATTGTTTAACCTAACTTAAAACAGTCACTAGATTCGAATCTACAAATTCTTTTTTTTTTTGAGACAGGATCTGGCTTTGTCAACCAGGCTGGAATACAGTGGCACAATCATGGCTCACTGCAACCTCCATCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTGCCACATCTGGTTACTTTTTGTATTTTTTTGGTAGAGACAAGGTTTCACCATGTTGCCCAGGCTAGTCTTGAGATCCACCCTCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTAGCCACTGCGCCTGGCCAGATTCTAAAAATTCTTTGAGTAGTTTTATTTTATAAAAATTGTTATGACTCCTGAAAATTATTTCCAAATAAAACTACATTGGCACTATCAGGGTCAACTTACGTCTTTAAGGTCCCAGATGTCATTAGTTCAGTCACTAATACAATACATTTCTTTCCTTTTAATATAGATTCCCAGGAATCATAAAATCGAACTATATTGCGGTGCTGGAGACCCTTCAACATCTCTGCTTCTTCCTTGAATCTTTGCTGCTCAGCTTTGGTTAACTTTCGGTCCTGAAAAGGAATAACAAGTTCCAAAATAAAGTCATGAAAATTCTCATGCACATTTCTAATACCACTCAACTGAATGCTTTATTGCATATATGCATGGATGTGTATATTTATTTATTTTTGCCTGTCAATGCTTTTCTCAAGACTTGTATCATCACAGATATCCTTTATTAGCTACTGTGACTCCTCCAACATGGCAATGCAGCACTATTATATTTCATAAGTACATTATAAACCCACCTGGGTAATAAATCAGTATCTTGAAAAACAGTATCTCAAAATGAATTGAGAAAAAGCAATAAAGCAGATAGGAAAGTTTCCCTAAGAAATCCCTGAGTTTCCATATCTAAAACATCTGTAATGTCAGAACAAGAACAATAAAAATGTTAAACATCTAGACATTTAATCTAATTAAATTTCTGAATTGCCAAAATAAAAGTGCTCTAGGTTTCCATACAGAAATATTAGTTTATGAACCAGTGAGACATTCAAATAGGCATTGGACCTCTAATCTGCTACATTAACTGCTAGAAGTCAAAGGAACAATTTTACAGAATTCTGAGGGAGAACTATGGCCCTAAAATTCTGATCCCAGACAAGCTATCCATCAAGTTTAAAAGTGAAAAAATCCTACATTTCTAGACAACAGGGACACAGACAGTACACCACCCCATACACCGTCTCTGACCATATTACTCAAAGAACTTCAATAAAAATTTGGACACAAAAAGTTAGAAAAGGAAGGTATGGGCTGGGCACGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGAGCACCTGAGCCCAGTTCGAGACCAGCATGGCTAACATAGTGAGACCCCCGTCTCTACAAAAAAATAATAATAAAAACAACAGCTGGGTGTGGTGGTGCATGTTTATAGTCCCTAACTACTCGAGAGGGTAAGGTGGGAGGATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTTGGTGACGGAGTGAGACCCTGTCTCAAAAAAATTAAATTAAAATAACAAAATGTTAGAAAAATTTTGTTATCAAAGTTGTACATGACATTATCTTCTAATTTCTTTTATTCTCTTTCATAGCATGCTATGTTTTATTTCTCATTCCTTTTTTTTCTAGACGGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAACCTCTGCTTCCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTTGACCTGAAGTGATCCACTTGCCTCGGCCTCCTCCCAAAGTGCTGGGACTACAGGAGTGAGCTATTGCGCCCGGCCTTCTCATTCCTTTCCTTGTGTATTTCTGCCCTATTTTCTTCATCAGGTACATTAATCGTTTTTCAGAAAGCCCAAAATAATAAAATCTATTTATCCTATTTTTATGTATATAAATTTTAAATTAATTTCAGTTTTTCTGAATTCCCTCTTCCTTTCTTTTGCTGTTATTTTCCTAATTTCTTAACATGAGTACTAAATTCCTTTAGTTATTGTTCATTAATAATGAAGATATTTTAGGCTATAAATTTTCTAACAGGTACAACTTTTGCAATGACCCACAGGTTTTGTTGTAATGTCTTCTCTTTTTCATTGCTTTCTAGTTTATAATTTTCATTTTCATTTTCATTTTCAGTTTTCAGTTTCTCTTTGATTCAAAATTTACCTAGGAATGTGATTTCTGCTCTCTAATTAGTTAAGAATCTTTTGGTTATTTATTTCATTATTTATTTCTAATCTTATTGAGTAATGCAAGTACAAAATCTCTCTGCTTTAACTTAAGGGTTTTTGGGGGCCACATATAACAAT
Task1_train_29997
This alteration in TSR2 (TSR2 ribosome maturation factor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
CAGTAGAGGGCCTGTTGCATAGTATGGTTTTTAAAAAAATCTTCATTCAATTTCTAGCTTTGGAGATGACATTAGGCAGAGTCATCTCTCTCAAGAAAGTATACTATCCATTGAGGATCCACACACGTAAATAGTTACAACATTGATAGATTTTCTGATAAAGAGGAGCTCAGGGTGCATGGGGTAACAGGATGGGGAGACAGCTTCTTAGTGGAGGTGGTGAATTGGGCTGGGTCTTAGTGAGAAGGAGTTAACTAGGTGGGGGAAGCAGAGAGAGCAACACTCAAGTTCTGTGGCATGAGGGTATAATGTGTTATATTTGGAAAGTAGCAGGGAGCTCAGTATTGGAGTATGGGCGTGTGTGCGTGGGGGGTGGAGGAGTGGTAGAGAATGAAGCTGGGGTGTGGGAAGCCCCCTTGAAAAGCATAAGACATGGAAGCCCTTATGTGCCTTTGATTTTATCATTTAGGCCAGTGTTTGCCAAAATTCATGCTAACTAGTTCTGTTAGATGTTCAGTGAAGAAGCTTCTCCAGTTACCTTATGTAAGAAAAACTCTTGTTCTGCTCCCACTGAAAAGTCTTAACACTCATGAACATATTAAAGGCTTGGGTAAGAATAAGAACCACTAAAAAACCTGTTTGCTTTTGTTTCTCATTAGCTTTCTATGGATAGTGTCCCTTAAGACCCAGCAGAACAGATATTTCTCAAAGGCAAACTGTGAAACACTGCAGTGGCTGGTAAAAATTCGTGGGCAGGTTCTAGGGTGAGAAATAGGATGGGATTTGCTGGCTAGAAAGTTCAGGAAATAATCAGTATGAAGCATAACCTGGAGAGGGAAAGACTGATGAGAACGCTGTTTTTGTCTAGAAACTGATGAGGCCTGAAGTAGGACAGTGGCAACAGGCATGGAAAAGAAGGGGTGGAATAGGGCCTTGGAGATTGGTTGGCTGTAGACAGGGAGGGAAAAAGAGGCAAGTTCCTGGTTTGAGTTGATGGGTGGATTAGGTGTCTTTTCTCGGAGTAGAGGAACCCTGGAGGATGCGAAGCAGGTTTAAAGAGTAAGGTGATGAGTCTGGCTTTAGATATGGAAGATCTGCGGCATCTGTGAAACGTCCAGGCACAGAGTAGTCTCAGTTGGAGATAAATTCGGGGGATATTAAGTTTGAGTGGTAGGGAAAGCCAAGAGTGTGGATGAGCTCTCCCAGAGAAAGCACATAGAGGGGAGAGGGCTAGGAGCTTTGTGGGAGACTTTCTTGAGTTACTGTCTAATTCAGAAAAAGTAGAGCATAGGCCCATAGGTAACTGAAGCCCAGAGAGGAAGGTGGCTCAGTCAGAGTCACACAGTAGGATGTCAGTGTCAAGGCTATGATGATTTCATCATTGGAATTACTATGTCCATTTCTTCTTAACTATCCCATTGGTCTGTGGCTTCTTTTATCAGTGGAACCACAGTTGTGAAGGTTCTCTTCACTTCAAAAACTTCAGCTTTTGCATGATAGAAATTAACATGGATCATGGATCTTCACTGTGCTAGGCATTGTGTTGGATGGTTCCTCATAACAGACCTTTGAGGAGGCCACCATTAGCCCCACTTTACAGATGAGAAAACTGAGGCTCAGAAAGAAGTAGCTTGCTCAAGGTCTCATAGAGGGGAGGCTAGTTAGAATAGTCCAGATGAAAGAGGGTGAGTGTAGGGCTGGGAGTTGTGGAAAGAGGCCTTGGTAGGATGGAAGAGATTGGAAATGAGGTATTAATATTTAGTGGTTCTTTAAAAAATTATGTTAAAACCTGGAATGCAGAACACTTTAGCAGATAAAAGGCAGGATGGAAGAGATTGGAAATGAGGTATTTTTAGTGGTTCTTAAAAAATTGTTAAAACCTGGAATGCAGAACACTTTAGCAGATAAAAGGCTCACTGTGCCTTTACCCACCCAGTTGCAGATCCACCAAGTAGATATTGAAGAGCAGTGGGCAGGGGTGATGAAGTTGGCTGGTCTTTGACCCAAGGGCCCTGTCCTTTTCTACTTAGCTGACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGTCTGCCCCAGGTGAGCTTATCACGGGCACAACTGCAGTCTCCCTACCTGTAGTCTTTCTTCTCCCCAGCTGTCTGTTTTGGGCCAAGACTCTTGACTATGACTCTGTTGCCTAGAGGAAAAAGTGTAGCCTTTCCAAACCCTGCCTTTTCTTTATTTCTATACATCATTCCCATCCAGGCCTGTTCCTCAGCCCCATCCCAAGGGCAGGTCAGGCCAGTCCAGGTCCATTTTCACCCCCGCTCTGGTTACCATTGCTCCCCAATAAGATTACCTTCCCTTTTACATCTTATTTCTTTCAAAGCCCAGTTCTAGAGGATTCCCTGCTAGTTAGGCTCTCTTTTGATGCTTTAGGCCTTCATTTGAGCCCTTCATATGTGGTTGCTTCATTGGTTAATTCCTTGGGGAGGAAAGAGCTCTGTTCTCTTCTGGAAAAATCCAACCTACTCCCCACTGTTGCTTCAAACACGTGCTGTTTGTATAGTAGATATCTGGAAAATCCAAACTGGTTGAATATTTTCTTGGTAGGTGAGCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAAGACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTGAAGTGGGTGCCCCCTGGGTTGGGGGATACAGATGTTTTCAATTTTCTGGAAGAGCAGCTAGATTCACAGGGAAGTGATAAGGGGATGGTGGTGGTTGGTGGTAGTAGTATTATCCAGAGAGGGCAGGGAACTTTCCTAAAGTTACACAGCCAATCCTGGAAAAGCTGGAGCAGAGCCTGGGTCTCCAGTGGTCAGTGTATTCAGCTCTCTTTTAAATCTCCCCTCCAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACGCTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGTTTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTTTTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGGAGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGAATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAGCCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCAGGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGGGCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCC
CAGTAGAGGGCCTGTTGCATAGTATGGTTTTTAAAAAAATCTTCATTCAATTTCTAGCTTTGGAGATGACATTAGGCAGAGTCATCTCTCTCAAGAAAGTATACTATCCATTGAGGATCCACACACGTAAATAGTTACAACATTGATAGATTTTCTGATAAAGAGGAGCTCAGGGTGCATGGGGTAACAGGATGGGGAGACAGCTTCTTAGTGGAGGTGGTGAATTGGGCTGGGTCTTAGTGAGAAGGAGTTAACTAGGTGGGGGAAGCAGAGAGAGCAACACTCAAGTTCTGTGGCATGAGGGTATAATGTGTTATATTTGGAAAGTAGCAGGGAGCTCAGTATTGGAGTATGGGCGTGTGTGCGTGGGGGGTGGAGGAGTGGTAGAGAATGAAGCTGGGGTGTGGGAAGCCCCCTTGAAAAGCATAAGACATGGAAGCCCTTATGTGCCTTTGATTTTATCATTTAGGCCAGTGTTTGCCAAAATTCATGCTAACTAGTTCTGTTAGATGTTCAGTGAAGAAGCTTCTCCAGTTACCTTATGTAAGAAAAACTCTTGTTCTGCTCCCACTGAAAAGTCTTAACACTCATGAACATATTAAAGGCTTGGGTAAGAATAAGAACCACTAAAAAACCTGTTTGCTTTTGTTTCTCATTAGCTTTCTATGGATAGTGTCCCTTAAGACCCAGCAGAACAGATATTTCTCAAAGGCAAACTGTGAAACACTGCAGTGGCTGGTAAAAATTCGTGGGCAGGTTCTAGGGTGAGAAATAGGATGGGATTTGCTGGCTAGAAAGTTCAGGAAATAATCAGTATGAAGCATAACCTGGAGAGGGAAAGACTGATGAGAACGCTGTTTTTGTCTAGAAACTGATGAGGCCTGAAGTAGGACAGTGGCAACAGGCATGGAAAAGAAGGGGTGGAATAGGGCCTTGGAGATTGGTTGGCTGTAGACAGGGAGGGAAAAAGAGGCAAGTTCCTGGTTTGAGTTGATGGGTGGATTAGGTGTCTTTTCTCGGAGTAGAGGAACCCTGGAGGATGCGAAGCAGGTTTAAAGAGTAAGGTGATGAGTCTGGCTTTAGATATGGAAGATCTGCGGCATCTGTGAAACGTCCAGGCACAGAGTAGTCTCAGTTGGAGATAAATTCGGGGGATATTAAGTTTGAGTGGTAGGGAAAGCCAAGAGTGTGGATGAGCTCTCCCAGAGAAAGCACATAGAGGGGAGAGGGCTAGGAGCTTTGTGGGAGACTTTCTTGAGTTACTGTCTAATTCAGAAAAAGTAGAGCATAGGCCCATAGGTAACTGAAGCCCAGAGAGGAAGGTGGCTCAGTCAGAGTCACACAGTAGGATGTCAGTGTCAAGGCTATGATGATTTCATCATTGGAATTACTATGTCCATTTCTTCTTAACTATCCCATTGGTCTGTGGCTTCTTTTATCAGTGGAACCACAGTTGTGAAGGTTCTCTTCACTTCAAAAACTTCAGCTTTTGCATGATAGAAATTAACATGGATCATGGATCTTCACTGTGCTAGGCATTGTGTTGGATGGTTCCTCATAACAGACCTTTGAGGAGGCCACCATTAGCCCCACTTTACAGATGAGAAAACTGAGGCTCAGAAAGAAGTAGCTTGCTCAAGGTCTCATAGAGGGGAGGCTAGTTAGAATAGTCCAGATGAAAGAGGGTGAGTGTAGGGCTGGGAGTTGTGGAAAGAGGCCTTGGTAGGATGGAAGAGATTGGAAATGAGGTATTAATATTTAGTGGTTCTTTAAAAAATTATGTTAAAACCTGGAATGCAGAACACTTTAGCAGATAAAAGGCAGGATGGAAGAGATTGGAAATGAGGTATTTTTAGTGGTTCTTAAAAAATTGTTAAAACCTGGAATGCAGAACACTTTAGCAGATAAAAGGCTCACTGTGCCTTTACCCACCCAGTTGCAGATCCACCAAGTAGATATTGAAGAGCAGTGGGCAGGGGTGATGAAGTTGGCTGGTCTTTGACCCAAGGGCCCTGTCCTTTTCTACTTAGCTGACTTGGAGCTAGATGGGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGTCTGCCCCAGGTGAGCTTATCACGGGCACAACTGCAGTCTCCCTACCTGTAGTCTTTCTTCTCCCCAGCTGTCTGTTTTGGGCCAAGACTCTTGACTATGACTCTGTTGCCTAGAGGAAAAAGTGTAGCCTTTCCAAACCCTGCCTTTTCTTTATTTCTATACATCATTCCCATCCAGGCCTGTTCCTCAGCCCCATCCCAAGGGCAGGTCAGGCCAGTCCAGGTCCATTTTCACCCCCGCTCTGGTTACCATTGCTCCCCAATAAGATTACCTTCCCTTTTACATCTTATTTCTTTCAAAGCCCAGTTCTAGAGGATTCCCTGCTAGTTAGGCTCTCTTTTGATGCTTTAGGCCTTCATTTGAGCCCTTCATATGTGGTTGCTTCATTGGTTAATTCCTTGGGGAGGAAAGAGCTCTGTTCTCTTCTGGAAAAATCCAACCTACTCCCCACTGTTGCTTCAAACACGTGCTGTTTGTATAGTAGATATCTGGAAAATCCAAACTGGTTGAATATTTTCTTGGTAGGTGAGCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAAGACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTGAAGTGGGTGCCCCCTGGGTTGGGGGATACAGATGTTTTCAATTTTCTGGAAGAGCAGCTAGATTCACAGGGAAGTGATAAGGGGATGGTGGTGGTTGGTGGTAGTAGTATTATCCAGAGAGGGCAGGGAACTTTCCTAAAGTTACACAGCCAATCCTGGAAAAGCTGGAGCAGAGCCTGGGTCTCCAGTGGTCAGTGTATTCAGCTCTCTTTTAAATCTCCCCTCCAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACGCTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGTTTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTTTTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGGAGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGAATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAGCCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCAGGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGGGCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCC
Task1_train_29998
The gene FGD1 (FYVE, RhoGEF and PH domain containing 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
GTACTGACACTAGTACACTAGATGGTCTAGCCTACGACACACCTAGGCTATAAGGTACAGCCTATGGCTCTTAGGCTACAAACCTGTAAAGCATGTTACAGTTGTACTGAATATTGTATTAATTTGTAGCACACTAATTATTTGGGTATGTAAACATATCTAAACCTAGAAAAGGTATAGTAAAGACAGGCGTAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAAACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGATGGGCGTGGTGGCATGCACCTATAATCCCACTTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACCGCACTCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAAAGAAAAGGTAGAGTAAAATATGATACTTTAATCTTATGGGGCCACTGTGTATATATGGTCTGTCATTGACCAAAATGTTTTATACAGTGCATGACTGTATATGTGTATGTATGTATATGTGTGCAAATGTGTATGTATGGTTACATATGTATTTTTTGGGTGCTGAACCATTTTAAAGTAATTAACAGACATTGTGACACTAAGCCCTCAGCATGCACTGCTGCAAAACAAGGCCATTCTCCTGCATAACCACCATAACATTATCACACCTAAGACAGCAATAATTTCTCAATATCTAATGTTCACTTTACATCCACATTTTCTCTTATTGTCCCACAAATGTCTTTTAGGGCTCTTTTTCCCAAACCAGGCTTCTGTCATGGACCAAGTACTGCATTTGATTGTTATTTCTCTTAGATCTGTGAATCTACAATAAACTATTTGTGGTGGTATTATTCATGTTGGGTTTCACATCCCATTCTTCTCTCTCCTCTAACAAAATCCACCAGAAGAAATTCTTGGTTTAATTAGGGAGAGCTTATTCATTTTCCAAAAGGTTTCCCTGGCAGGAGTGCCACCTTTCCCCATATCGTGAAGTACTCACCCTGAATCTAAATGGTGTCTAACCCTTAGGGATCACCCCCACCGCTGAAGAGCAAGCCTGCATCTTTGGGGAAAGGTGCCCATCCTTTCTCTGGAACAATCTCTGGGCCTGGAATGCCTCAGCATATCTGAACAAAAGGGAGGTAGGCGCTGGAGGAAAGGCATAGGCAAGGATAAGTACCTGGCCTGGAGCTCGAGGGAGCGCTGCTTTCCTGACACCAGGAAGGTTCGAGGCAGATTGAGGTTGGAGCTCTCCTTTAGCTGAATGGAGGCAGAAAGGGGCATGGTGAGGCCACTGAACTCCACAGGGCCCTAGCCCTCTGCACACATACACACACAGACTCGGGGTCAAAGCCAGCATCTTTGTTCCTCCCAACACCAATGCCCCACTCCAAGTTCCCATTTCCCACCTCTTGGATGCTTACCTCCATGCCATCTACATCAATGCGTGCCCGCACGCTAAACTTCTGGCCAAGGAGCCGCAGCCTGGGCACGCAGTAAAGGAGGCGGTCGTTGAACTAGGAAGGAAAAAGTTTGGGATGTATGTGCAGAGGGCCTAGTGGGGATGTGGCCCAGCTCCTTGCCCTGAAGCTTTACTGCCAAGGACTGTAGGCAATAGATGGAGAAAAGACAGCCCAAATTGGGCACAGGGGTCACAAGGAAAGAGCCTAGGCATGGAAGACACTTCCTAGTGGGGAACCTCGGGCAAGTCACTTCTCTGCAAGGCTTATTTGCCTCATCTGTAAAGTGGAGAAAAAAAATCCTAGCTAGGTAGTGAAAATACAATTCGTTACTAGAGGAGAGAATGACTAGCAGGAGGTATAGTCTGTTTTTCTTTTTTTTCCTCTTTCAGGAATGAAAGGAGGTATAGTCTTTGAGTGAGTACCAGGTCACTATGTGTGTGTGTGTTGGGAGGGGCATGACCCACCCACAATTCCATGCCTGGCACTTACTAGTATGAGGTATCGGTCTTGAGTGGTCCCATTCTTTGCTGACAGCTTAAGGATGTGGCCTTCTTTTATGAGCTCTTTGGTGGGGCTGACAATGTCCTCCTCGCCCCCTAACAGCTCATATACCTTCAGCAGCTTATGCATTCGCTCCTGGCAAAAGACAGGGAACAAAAGGCACGGTTGGGGTGCCAGCCTCCTGTCAGATGCCCACAAGTCACGACACCCCCACTCCAGGATGGAGACACCACAGGTGGGTGGCCAAGGAAGGGCAGGGGCTAGAAGGGCCACTCACCATTTTGCGGATGGCAGCATTCGAGTGCTCTGCTGCTGTGGCGATCAGCTCCAGAGACTCTACAGGCATAGAGGGGTGAGGTCAGATGGGGGACTAGCAGAGAGGAGCCTTTCCGGGGCTTTGTTTTTTGTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCACGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAACCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCGGGGCTTCTTTCCTCCCTGAATACCTCCTCCTGGCCTGATCACACCCTCCCATCTCAGAAAGCTCCACCCTCAAAGATGTCCACAGCAACATCATTTAAAATCAGAAGTTGTCCAATGTCACAATGCCAGAATCACAATAGATGGAGTAGTTGGCAGCCAATAAAAAAATGCAAGCTTGCCAAGATTATTATTACCATTAATAATAACAATAATAGTTACATATGTAACCAGAAGGAAGCATACCCATGTTGTCTCTGGTTGGTGGGGCCGTGGGTGGTTTTTATTGTCTTCTTTAGGTTTTTCTGTATTTTCCGTATTTTTGACAAAGAACATGTATTACTTTTATAATCAGAAAAAGCCATATAAAGAAACAATGAGATGATCCTGTTCTTTGTCTCAATGATTCTGATTCTGGGTATCTATTCTAGGAAAATACACATTCTATACACAAACACATTTTTGTCATATTGGTATTTACAACAGTTCCAAGTGGGAAACAAAAATGTCCATCTGTAGGGGAGCACACCTTCACCTGTACCTCTTCCCTGCCAAAAAAAATGGCCAACTGTAGGGGTTCAGTTAAATACATTATGGTGTCTTCATATAATGGAACATTAAACAACCTTTACAAATGATCCTCATGTAGGTCTTTTAATAATCTGGGAAATGCTCAGGGTGTTTTAAGAAAAGGATACAAACATGTTTATATAGAATGATCTTACTTTTACAAGTATACATGTCTAAAAAACACCAGGAAGAATTTATGTCACAATGTTCATTGTGCTTATTCTCTGGGGGCTCAGATAACAGGGGATTTTTTTCCTACTTCTTTCATCTTTTTCTGTAATTTCCATATTTCCTATAGTGACCAGGTATCATCAAAAAAAAAAAAAGAAAAAGCTGAAATGAGTCCCTGTACATCTCCACACACTAATAAATCCCACCCATGCTTAAGGCCTGGCCACAGTCTTTGTGTACCCCATTCTGTATGTGCTGGATCTCCCCACTCAGATCAGCCTGTGCTAGAGGAGCAGAGGTGCTTCTGAAGGAGGTCCATATGGCTGGCCAACCAAGTCGTGTTTTCCTAAGAGGCTCTCTCTTCATGACCAAGTTTTGGTGCTCACGGAGATCTATGGCCCCTGTCCCAGCTCAGGCATCCACATGCCTTTCAGGGGCCGGGCTCCAATCTCCAACCCTTATTCCATCCTAGCTGCCAGAAGGAGCTTTCTCACACAGTTTACTGTCACTCCTCTGCTCAAATCTGTCAATGGCTCCCCTGTGCCTGCAGGGTAAAGACCTAGCCCTTTAGCCTGACATTCAAAGCCCTTGGTGAGGCTGGGCGTGGTG
GTACTGACACTAGTACACTAGATGGTCTAGCCTACGACACACCTAGGCTATAAGGTACAGCCTATGGCTCTTAGGCTACAAACCTGTAAAGCATGTTACAGTTGTACTGAATATTGTATTAATTTGTAGCACACTAATTATTTGGGTATGTAAACATATCTAAACCTAGAAAAGGTATAGTAAAGACAGGCGTAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAAACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGATGGGCGTGGTGGCATGCACCTATAATCCCACTTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACCGCACTCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAAAGAAAAGGTAGAGTAAAATATGATACTTTAATCTTATGGGGCCACTGTGTATATATGGTCTGTCATTGACCAAAATGTTTTATACAGTGCATGACTGTATATGTGTATGTATGTATATGTGTGCAAATGTGTATGTATGGTTACATATGTATTTTTTGGGTGCTGAACCATTTTAAAGTAATTAACAGACATTGTGACACTAAGCCCTCAGCATGCACTGCTGCAAAACAAGGCCATTCTCCTGCATAACCACCATAACATTATCACACCTAAGACAGCAATAATTTCTCAATATCTAATGTTCACTTTACATCCACATTTTCTCTTATTGTCCCACAAATGTCTTTTAGGGCTCTTTTTCCCAAACCAGGCTTCTGTCATGGACCAAGTACTGCATTTGATTGTTATTTCTCTTAGATCTGTGAATCTACAATAAACTATTTGTGGTGGTATTATTCATGTTGGGTTTCACATCCCATTCTTCTCTCTCCTCTAACAAAATCCACCAGAAGAAATTCTTGGTTTAATTAGGGAGAGCTTATTCATTTTCCAAAAGGTTTCCCTGGCAGGAGTGCCACCTTTCCCCATATCGTGAAGTACTCACCCTGAATCTAAATGGTGTCTAACCCTTAGGGATCACCCCCACCGCTGAAGAGCAAGCCTGCATCTTTGGGGAAAGGTGCCCATCCTTTCTCTGGAACAATCTCTGGGCCTGGAATGCCTCAGCATATCTGAACAAAAGGGAGGTAGGCGCTGGAGGAAAGGCATAGGCAAGGATAAGTACCTGGCCTGGAGCTCGAGGGAGCGCTGCTTTCCTGACACCAGGAAGGTTCGAGGCAGATTGAGGTTGGAGCTCTCCTTTAGCTGAATGGAGGCAGAAAGGGGCATGGTGAGGCCACTGAACTCCACAGGGCCCTAGCCCTCTGCACACATACACACACAGACTCGGGGTCAAAGCCAGCATCTTTGTTCCTCCCAACACCAATGCCCCACTCCAAGTTCCCATTTCCCACCTCTTGGATGCTTACCTCCATGCCATCTACATCAATGCGTGCCCGCACGCTAAACTTCTGGCCAAGGAGCCGCAGCCTGGGCACGCAGTAAAGGAGGCGGTCGTTGAACTAGGAAGGAAAAAGTTTGGGATGTATGTGCAGAGGGCCTAGTGGGGATGTGGCCCAGCTCCTTGCCCTGAAGCTTTACTGCCAAGGACTGTAGGCAATAGATGGAGAAAAGACAGCCCAAATTGGGCACAGGGGTCACAAGGAAAGAGCCTAGGCATGGAAGACACTTCCTAGTGGGGAACCTCGGGCAAGTCACTTCTCTGCAAGGCTTATTTGCCTCATCTGTAAAGTGGAGAAAAAAAATCCTAGCTAGGTAGTGAAAATACAATTCGTTACTAGAGGAGAGAATGACTAGCAGGAGGTATAGTCTGTTTTTCTTTTTTTTCCTCTTTCAGGAATGAAAGGAGGTATAGTCTTTGAGTGAGTACCAGGTCACTATGTGTGTGTGTGTTGGGAGGGGCATGACCCACCCACAATTCCATGCCTGGCACTTACTAGTATGAGGTATTGGTCTTGAGTGGTCCCATTCTTTGCTGACAGCTTAAGGATGTGGCCTTCTTTTATGAGCTCTTTGGTGGGGCTGACAATGTCCTCCTCGCCCCCTAACAGCTCATATACCTTCAGCAGCTTATGCATTCGCTCCTGGCAAAAGACAGGGAACAAAAGGCACGGTTGGGGTGCCAGCCTCCTGTCAGATGCCCACAAGTCACGACACCCCCACTCCAGGATGGAGACACCACAGGTGGGTGGCCAAGGAAGGGCAGGGGCTAGAAGGGCCACTCACCATTTTGCGGATGGCAGCATTCGAGTGCTCTGCTGCTGTGGCGATCAGCTCCAGAGACTCTACAGGCATAGAGGGGTGAGGTCAGATGGGGGACTAGCAGAGAGGAGCCTTTCCGGGGCTTTGTTTTTTGTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCACGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAACCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCGGGGCTTCTTTCCTCCCTGAATACCTCCTCCTGGCCTGATCACACCCTCCCATCTCAGAAAGCTCCACCCTCAAAGATGTCCACAGCAACATCATTTAAAATCAGAAGTTGTCCAATGTCACAATGCCAGAATCACAATAGATGGAGTAGTTGGCAGCCAATAAAAAAATGCAAGCTTGCCAAGATTATTATTACCATTAATAATAACAATAATAGTTACATATGTAACCAGAAGGAAGCATACCCATGTTGTCTCTGGTTGGTGGGGCCGTGGGTGGTTTTTATTGTCTTCTTTAGGTTTTTCTGTATTTTCCGTATTTTTGACAAAGAACATGTATTACTTTTATAATCAGAAAAAGCCATATAAAGAAACAATGAGATGATCCTGTTCTTTGTCTCAATGATTCTGATTCTGGGTATCTATTCTAGGAAAATACACATTCTATACACAAACACATTTTTGTCATATTGGTATTTACAACAGTTCCAAGTGGGAAACAAAAATGTCCATCTGTAGGGGAGCACACCTTCACCTGTACCTCTTCCCTGCCAAAAAAAATGGCCAACTGTAGGGGTTCAGTTAAATACATTATGGTGTCTTCATATAATGGAACATTAAACAACCTTTACAAATGATCCTCATGTAGGTCTTTTAATAATCTGGGAAATGCTCAGGGTGTTTTAAGAAAAGGATACAAACATGTTTATATAGAATGATCTTACTTTTACAAGTATACATGTCTAAAAAACACCAGGAAGAATTTATGTCACAATGTTCATTGTGCTTATTCTCTGGGGGCTCAGATAACAGGGGATTTTTTTCCTACTTCTTTCATCTTTTTCTGTAATTTCCATATTTCCTATAGTGACCAGGTATCATCAAAAAAAAAAAAAGAAAAAGCTGAAATGAGTCCCTGTACATCTCCACACACTAATAAATCCCACCCATGCTTAAGGCCTGGCCACAGTCTTTGTGTACCCCATTCTGTATGTGCTGGATCTCCCCACTCAGATCAGCCTGTGCTAGAGGAGCAGAGGTGCTTCTGAAGGAGGTCCATATGGCTGGCCAACCAAGTCGTGTTTTCCTAAGAGGCTCTCTCTTCATGACCAAGTTTTGGTGCTCACGGAGATCTATGGCCCCTGTCCCAGCTCAGGCATCCACATGCCTTTCAGGGGCCGGGCTCCAATCTCCAACCCTTATTCCATCCTAGCTGCCAGAAGGAGCTTTCTCACACAGTTTACTGTCACTCCTCTGCTCAAATCTGTCAATGGCTCCCCTGTGCCTGCAGGGTAAAGACCTAGCCCTTTAGCCTGACATTCAAAGCCCTTGGTGAGGCTGGGCGTGGTG
Task1_train_29999
This alteration in FGD1 (FYVE, RhoGEF and PH domain containing 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Aarskog syndrome
TGGACCCTATACTTGCTGTGGCCTCTGCCTGGAACATGCTCAACCCCAACAGGCATGTGCCTACCTTCTTTTTATTCAGGTTTTGACTCACTGTCTTCTAGTCAGACAGGCCACCCAATCTCAAGTAGGCTCTCCAGCCACTGTCATGCCACCCTCTTCTAATTCTCTGAATTATACTCAGCACCTATCTAATATTCTACTGTGTATTTATTTACTTATTTATTTATTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCACAGCTCAATGCAACCTCTGCCTCCCGAGTTCGAGTGATTCTCCTGCCCTGGCATCCCGAGTAGCTGGAATTACAGGCACCCACCACCACGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGTAGTGATGCAATCTTGGCTCACTGCAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGCGATCCCCCGGCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTACTGTGTGTTTATTATTTTTGTTTACTGTGTCTCATTGCTGACTAGAATATATGCTCCCTGAGATCAAGGACCTTGTCTGTTTTGTTCACCTCTATATCCCCAGTACCTAGAACAATGCACAAAAACATGGAGGTGCTCAGTAAGTAGCTGTTAAACTAATGAATGAATGAATGAATGAAAATCTGGGGAAGAGAAAGTGGGGTAGGCGGGGGGAGCTCTATCTGGGGTGTGGGGTTCAGGTTGATACTGGAGGAATCGGGATAGAAGACTTTTCTAGTGGTTCAATGTGTAAGGATTCAGTCTGGGGAGGAGGTATCTCAGCCTAGAGATCCAAATTTGAGAGGTGGAAAATTTGGGGTCCAGTCTAGGGTGCTCAATTTGGAGGTTCTTTTGGGAGGTTCATTCTGGGTAGTGGCTGGCGGACATGGAGGAAAGCTCTAAATCTGGAGGATGGAAAATTGATGAGCCAGGGCTCTTTCTGGGGAGCTCAGCTGTGGAGATTCTGTGATGTGGGCTTGGCCTGAGGGGTCAGTCTGGCCTCTCAGCTTGGTGGCTCAGTCCCTGAGGTTTCAGGCTCAGTTTCCTTTCTCATTTGGTACAACTTCATTTGGGGGTGAGTCTAGGGGTCAGCCTTGGGGTCTCGATCTAGGAAATGGATGAGTTCCTTTAGGGGATCATAATGGGCATGCCACTCAAACTCTGGGGTTCCAGTTGGGAAGTTCAGGTTGGGGATCTCCTTCTGAATGTTCTCTACAGGTATTCAGGCAGGGGTCTCAACTTAGAGGTCCCTGCCTGAATACCCAAAGAGAACATTCAGAAGGAGGATCTCATCCTGGGGTCTCACTTCAGAACCTCAATGTGGGCCTTTCAGTTTGGAGATTCTCCTCTGGGATTTCAATCATGTGGCAATGGAAGGCCGACCCTGTGAATTAAGTCTTGGGGTCCTGCCTCAGAGGTCTGGCCTAGAGCTATTAGTGTGGAGAAGTAGGAAGGGGCCTGGGTGCACACACTCACTTTGGGCATCCTTGCTGTCCGGGGAGCCATGGGGCAGCTTTAACAGATAGTCCTTGAGAAGAAGCTCATAGCGGGGGATGCGCTGCACAGGCTCCAGCATGTGGTGCTGCAATGTCAGGTTGCCACAGGCTTCCTCCTTCTGTGACAGGCAGAAGCAGAGGGGCTCAGATCTGGCTGCAGATGCCCCACCACATCCCTGCAGACCTCTCCTCCCCAAGTCTGCTCCTTCCAGCTTGACCACTTACCTGCACCTCATGGATGATGACTTTAAACTGGGTGGAGCGCTCTGTCCAGGTGTTGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACATCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCCTCAATTCTGCCCTGCCCGAGTACTGGTTGAAGTACTCACCCTGAGACCTTACTGCCAGGACCACTTCATATACTGATTATCAACTGTGTGCTGGGTGATGCTGGGGACACAGAAATGAGTCACACCCATTTGAGCCCTGAGAGGGTCACCATCTGGTAGGTGAGACAAAGAGACCAGGCCTGGTTGTACTCCTCATTGGTCAGTCTGGTGCAGGAGCAAAGCAAACCAGACCTGGTCCCAGCCCTCAGGGTTCACAGACTCGTGGGGAGATATAGGAACCAGGCTTCATGCTGGCTTTCTGTGGTCACAGTCTGGTGAGGGGGACACACTTGACTCTGTAGGTGTGGAGAATCTGTAGGTATGGGGAATGTGGACATGATTTTAAGCAGGGAGAGACATGGTCTGACTTGTTTAGAGAGACCGTTCTGGCAAATGGTGTGGACTCTAAAGGCTGGATTGGAAGAAGGCCTGAGAGGCTGCCTGTAAACCTTGCCCTTCTACCTCAGGACTCAGCTTAGGCATCACCTTCTCCCTGAATCCTTCTGTAATCTCCAAGCTAGGCTTGGTCCATTTGTCTGGATTCCCACAGCCTCCCATTCTCTGCTCTATCATAGCACTGTAAAAATAACAAAAGCTTACATCCATTGAGCACTTACTGTATATATCTGGTACTGTTTTGTTTGTTTGTTTTTTTTTTTTTTGAGAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTTACCGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTATACCTGGTACTGTTCTAAGCTCTTTTATGTATTAAGTTATTTAATCCTTAAAACAACCCTACAAGGTAGGCCGTTATTATTTCCCCCCATTTTATAGATGAGGAAACTGAGGCATAGCAACTTAAGAAACTTGCTCAAAGCTAGCAAGTGGCACAGCTGGAATTTGAACTCAGCCAATTTGGCTCCTAACCTCATACTCCTGTAGGCTATGCTATTCTGTTGCAATTTTCTGAGTTCTGGTCTGTGTTCCACATCAGACTGGGAGGTCCTCGAAGGCAGAGCTTGGGCCTGATTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTAAGACAGAGTCTAGCTCTATCACCTGGGCTGGAGTGCAATGGTGCAATTTCGGGTCACCACACCTCCGCCTCCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCATCACGCCAGGATAATTTTTAATGTTTTTAGTAGAGGCAGGGTTTCGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATTCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTCTGATTCCTTTTTCAAAAGTCACTAAGAGGAAGAGCAAGCAGAAATGAAGTCTTGTGTACACCTCTGGGTCTGGGCTCGGCAGGCAGGTGGACAGGGGAGTGGGCAGTCTAGGTCTAGGGCCCCTCACCATTCCTCCATGCGCTTCTCTAGCTCAGGCAGCAGGAACTGCTGGTGGAAGCAATAGATGG
TGGACCCTATACTTGCTGTGGCCTCTGCCTGGAACATGCTCAACCCCAACAGGCATGTGCCTACCTTCTTTTTATTCAGGTTTTGACTCACTGTCTTCTAGTCAGACAGGCCACCCAATCTCAAGTAGGCTCTCCAGCCACTGTCATGCCACCCTCTTCTAATTCTCTGAATTATACTCAGCACCTATCTAATATTCTACTGTGTATTTATTTACTTATTTATTTATTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCACAGCTCAATGCAACCTCTGCCTCCCGAGTTCGAGTGATTCTCCTGCCCTGGCATCCCGAGTAGCTGGAATTACAGGCACCCACCACCACGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGTAGTGATGCAATCTTGGCTCACTGCAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGCGATCCCCCGGCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTACTGTGTGTTTATTATTTTTGTTTACTGTGTCTCATTGCTGACTAGAATATATGCTCCCTGAGATCAAGGACCTTGTCTGTTTTGTTCACCTCTATATCCCCAGTACCTAGAACAATGCACAAAAACATGGAGGTGCTCAGTAAGTAGCTGTTAAACTAATGAATGAATGAATGAATGAAAATCTGGGGAAGAGAAAGTGGGGTAGGCGGGGGGAGCTCTATCTGGGGTGTGGGGTTCAGGTTGATACTGGAGGAATCGGGATAGAAGACTTTTCTAGTGGTTCAATGTGTAAGGATTCAGTCTGGGGAGGAGGTATCTCAGCCTAGAGATCCAAATTTGAGAGGTGGAAAATTTGGGGTCCAGTCTAGGGTGCTCAATTTGGAGGTTCTTTTGGGAGGTTCATTCTGGGTAGTGGCTGGCGGACATGGAGGAAAGCTCTAAATCTGGAGGATGGAAAATTGATGAGCCAGGGCTCTTTCTGGGGAGCTCAGCTGTGGAGATTCTGTGATGTGGGCTTGGCCTGAGGGGTCAGTCTGGCCTCTCAGCTTGGTGGCTCAGTCCCTGAGGTTTCAGGCTCAGTTTCCTTTCTCATTTGGTACAACTTCATTTGGGGGTGAGTCTAGGGGTCAGCCTTGGGGTCTCGATCTAGGAAATGGATGAGTTCCTTTAGGGGATCATAATGGGCATGCCACTCAAACTCTGGGGTTCCAGTTGGGAAGTTCAGGTTGGGGATCTCCTTCTGAATGTTCTCTACAGGTATTCAGGCAGGGGTCTCAACTTAGAGGTCCCTGCCTGAATACCCAAAGAGAACATTCAGAAGGAGGATCTCATCCTGGGGTCTCACTTCAGAACCTCAATGTGGGCCTTTCAGTTTGGAGATTCTCCTCTGGGATTTCAATCATGTGGCAATGGAAGGCCGACCCTGTGAATTAAGTCTTGGGGTCCTGCCTCAGAGGTCTGGCCTAGAGCTATTAGTGTGGAGAAGTAGGAAGGGGCCTGGGTGCACACACTCACTTTGGGCATCCTTGCTGTCCGGGGAGCCATGGGGCAGCTTTAACAGATAGTCCTTGAGAAGAAGCTCATAGCGGGGGATGCGCTGCACAGGCTCCAGCATGTGGTGCTGCAATGTCAGGTTGCCACAGGCTTCCTCCTTCTGTGACAGGCAGAAGCAGAGGGGCTCAGATCTGGCTGCAGATGCCCCACCACATCCCTGCAGACCTCTCCTCCCCAAGTCTGCTCCTTCCAGCTTGACCACTTACCTGCACCTCATGGATGATGACTTTAAACTGGGTGGAGCGCTCTGTCCAGGTGTTGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACACCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCCTCAATTCTGCCCTGCCCGAGTACTGGTTGAAGTACTCACCCTGAGACCTTACTGCCAGGACCACTTCATATACTGATTATCAACTGTGTGCTGGGTGATGCTGGGGACACAGAAATGAGTCACACCCATTTGAGCCCTGAGAGGGTCACCATCTGGTAGGTGAGACAAAGAGACCAGGCCTGGTTGTACTCCTCATTGGTCAGTCTGGTGCAGGAGCAAAGCAAACCAGACCTGGTCCCAGCCCTCAGGGTTCACAGACTCGTGGGGAGATATAGGAACCAGGCTTCATGCTGGCTTTCTGTGGTCACAGTCTGGTGAGGGGGACACACTTGACTCTGTAGGTGTGGAGAATCTGTAGGTATGGGGAATGTGGACATGATTTTAAGCAGGGAGAGACATGGTCTGACTTGTTTAGAGAGACCGTTCTGGCAAATGGTGTGGACTCTAAAGGCTGGATTGGAAGAAGGCCTGAGAGGCTGCCTGTAAACCTTGCCCTTCTACCTCAGGACTCAGCTTAGGCATCACCTTCTCCCTGAATCCTTCTGTAATCTCCAAGCTAGGCTTGGTCCATTTGTCTGGATTCCCACAGCCTCCCATTCTCTGCTCTATCATAGCACTGTAAAAATAACAAAAGCTTACATCCATTGAGCACTTACTGTATATATCTGGTACTGTTTTGTTTGTTTGTTTTTTTTTTTTTTGAGAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTTACCGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTATACCTGGTACTGTTCTAAGCTCTTTTATGTATTAAGTTATTTAATCCTTAAAACAACCCTACAAGGTAGGCCGTTATTATTTCCCCCCATTTTATAGATGAGGAAACTGAGGCATAGCAACTTAAGAAACTTGCTCAAAGCTAGCAAGTGGCACAGCTGGAATTTGAACTCAGCCAATTTGGCTCCTAACCTCATACTCCTGTAGGCTATGCTATTCTGTTGCAATTTTCTGAGTTCTGGTCTGTGTTCCACATCAGACTGGGAGGTCCTCGAAGGCAGAGCTTGGGCCTGATTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTAAGACAGAGTCTAGCTCTATCACCTGGGCTGGAGTGCAATGGTGCAATTTCGGGTCACCACACCTCCGCCTCCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCATCACGCCAGGATAATTTTTAATGTTTTTAGTAGAGGCAGGGTTTCGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATTCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTCTGATTCCTTTTTCAAAAGTCACTAAGAGGAAGAGCAAGCAGAAATGAAGTCTTGTGTACACCTCTGGGTCTGGGCTCGGCAGGCAGGTGGACAGGGGAGTGGGCAGTCTAGGTCTAGGGCCCCTCACCATTCCTCCATGCGCTTCTCTAGCTCAGGCAGCAGGAACTGCTGGTGGAAGCAATAGATGG