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_31500
This genomic variant is located on Chromosome X, within the L1CAM (L1 cell adhesion molecule) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; MASA syndrome
CTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGACAAACCCCAGACAGGG
CTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGCTGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGACAAACCCCAGACAGGG
Task1_train_31501
This mutation is located in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
GTATGTGGTGTGGTGTGTGCGCTGTCTCTGGAAAATGCCCACCCTGTGTTCCCACCACCCTAACAGGGCCGGGAGGGGCCAGGGTGCTGCCAGGCTCTCTGGGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCG
GTATGTGGTGTGGTGTGTGCGCTGTCTCTGGAAAATGCCCACCCTGTGTTCCCACCACCCTAACAGGGCCGGGAGGGGCCAGGGTGCTGCCAGGCTCTCTGGGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCAAAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCG
Task1_train_31502
Given this variant in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
GGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGC
GGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCTACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGC
Task1_train_31503
Here is a genetic alteration in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGA
CCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCAACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGA
Task1_train_31504
The following genetic variant occurs in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
AGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGG
AGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCGTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGG
Task1_train_31505
Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
AGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGG
AGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTTGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGG
Task1_train_31506
The gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
AGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGA
AGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGTTCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGA
Task1_train_31507
Consider a variant on Chromosome X in gene AVPR2 (arginine vasopressin receptor 2). Determine its clinical classification and disease relevance.
Pathogenic; not provided
AAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCC
AAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCCGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCC
Task1_train_31508
Here’s a variant in AVPR2 (arginine vasopressin receptor 2) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
CCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATG
CCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGACATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATG
Task1_train_31509
This sequence change occurs on Chromosome X, altering AVPR2 (arginine vasopressin receptor 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Nephrogenic syndrome of inappropriate antidiuresis
GGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGC
GGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACTGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGC
Task1_train_31510
Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Nephrogenic diabetes insipidus
GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCC
GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCACCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCC
Task1_train_31511
This genomic variant is located on Chromosome X, within the AVPR2 (arginine vasopressin receptor 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Nephrogenic syndrome of inappropriate antidiuresis
GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCC
GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCTCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCC
Task1_train_31512
Located on Chromosome X, this mutation impacts AVPR2 (arginine vasopressin receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
GCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGC
GCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTTGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGC
Task1_train_31513
This variant affects gene AVPR2 (arginine vasopressin receptor 2) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
CAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTC
CAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGTGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTC
Task1_train_31514
Here is a genetic alteration in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
CGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCAC
CGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAATGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCAC
Task1_train_31515
Mutation context: Chromosome X, Gene AVPR2 (arginine vasopressin receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
GGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCT
GGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGACCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCT
Task1_train_31516
The gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Diabetes insipidus, nephrogenic, X-linked
TGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCT
TGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTTGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCT
Task1_train_31517
This variant lies on Chromosome X and affects the gene AVPR2 (arginine vasopressin receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Nephrogenic diabetes insipidus
TGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACA
TGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTGTGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACA
Task1_train_31518
Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
AGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGC
AGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTGTGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGC
Task1_train_31519
Given this variant in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCT
CGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGATGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCT
Task1_train_31520
An alteration has been detected in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Nephrogenic diabetes insipidus
GGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCT
GGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCTCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCT
Task1_train_31521
Given a variant located on Chromosome X and affecting NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Ogden syndrome
CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGG
CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGCAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGG
Task1_train_31522
A sequence alteration has been identified in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Ogden syndrome
CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGG
CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGTAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGG
Task1_train_31523
Gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Ogden syndrome
CCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGC
CCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGCCATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGC
Task1_train_31524
A sequence alteration has been identified in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Ogden syndrome
GCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCA
GCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGAAATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCA
Task1_train_31525
Here’s a variant in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Ogden syndrome
GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGC
GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCCGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGC
Task1_train_31526
This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Microphthalmia, syndromic 1
GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGC
GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCCGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGC
Task1_train_31527
The following genetic variant occurs in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Inborn genetic diseases
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCACCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
Task1_train_31528
This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; See cases
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCACCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
Task1_train_31529
This variant affects gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; Intellectual disability
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCACCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
Task1_train_31530
This mutation occurs in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Ogden syndrome
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCACCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
Task1_train_31531
This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; NAA10-related disorder
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAGTCGGTCTCGCCTGCAGCCACTGTCTTGGGGCTCCTGAGTGCCGCCCCCGCTCGCCTTGCTTGGCTTCATGCAGGCGCTTACCTCGTCGGCCATCTGAGTGAGGTCCCGCTTCATGGCATAGGCGTCCTCCCCATCTGCATAGTATTTGGGCTCCACTTCACTGATCCTGGGGGCAGAGGGTTAGAGAGCAAGGAGGAAGACCTGTATCCCGGGGACACCCTCCTCCACTCCTGGTATCGTGGCTACTGGAGCAAGGTGCCATGTTTTCTCCCTGAAGGCTCCATCCTGAGACAACAAGTCCAGTGTGACCTGCCCTCTGTTCTCTCCAGCAAAGGCTCCAGGACACAGCGGCCCGCCCCACCCGTCCTGCCCCCGTTCTGTGTCCTTAGCCTGGATACTAAGGATCCATTTCTGCGGTTTCTTGTGAGCTGAAGCCCTGAATTCAGCCTTCCCCTTCCCTCCCTGCCCTGCGCCCTGTCCCTTACTGAGCTGCCTCACAACAGCCATCAGAACCCAGGAAAGACGGTGAGCCCTGCCTGAGCAGCTCTGGGGCCGTGACTACACTGGGCAGGTGTGTGTGCAGACTCGCGTGGCCATGTCCCTGGAAGGGGAGCTGGACTCAATGGCCTAGGCTGGCCCTGCCAGGCCTAAGACATGAGGATTGCTGACTTAGCTATAAAGCAATTCCCACCAGACATCGTCATCTGGGTCACAGATCCCTCTTGCCAGCATCCAGCCCAGAGGCCACCGCCCTTCCCAACAGTCCCTCTTCTTCATCCCCTACCAAACGGGCTGAGTGCAGTTAGTGTCCCTCCACAGGCAGCCCACCCCAGCTTCACTTGCAAGCACTTTTTTCCACTGTCTACTGGGCATGCCAACTGCCAGGTTCTCTCTAGTGTGCTAGGCACACGGGGCCTCCTGGTCCTCAGGCAGACCTCCCCCATCCACTAGGCTGCCTGGCCACTGGCCCTTCCTTCCTGAATGTGCATTCTCCTCGATTCTGCTCTCTCTTGGATTCTTCTAGGTGCTTGGTCATGCTTGAGTCCTGCTCCTCAGCATCTGCTCACGCCAGGGACCCACACCTCTCTATTCCCAAACATTACTAAACAGCCCGTGTGCCCTTCGCCAGCCTCAGCCATCATGGGCCAGAGCTCCTCCATCACAACACATGGAGCACGTTTCAGCAGGCAGGTGCTGTCTCCATGCCGGCTTTTCAACCATCAGCCGCCGAGTGAATGTGGAGGTATCCTGGCAGTGCTGGGGTCCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCACCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCAT
Task1_train_31532
Here is a mutation in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Ogden syndrome
CCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGG
CCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTCAAGGCAGTATCTCTCCCCCTCAATCCCCCTTCCCTCAGCCCGGCTTCCACCTCTTCCTGACATGCAGGGAGACATATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGGAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGG
Task1_train_31533
Here is a mutation in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Microphthalmia, syndromic 1
TATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
TATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGTAGAGTGGACATGCACTACAGCCCCCTAAGACCCCAGCTGGGGGAGAGCCGGGAGCCTCTTGGATCAGAGCAGCCGATCCTGCCACCCTCTGCTGCCTGAAAACCCCAAGCCTGCCGGGTGTGGGGCACACGCCTATAGTTCCAGCTACTTGGCAGGCCGGGGCAAGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGGAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
Task1_train_31534
This alteration occurs within gene LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Microphthalmia, syndromic 1
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGGATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
Task1_train_31535
Given this variant in gene LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Ogden syndrome
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGGATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
Task1_train_31536
An alteration has been detected in LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Ogden syndrome
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGCATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTATGATTCCAACTCTGTGACATCCTGGAAAAGGCAAAACCATGCAAACAGTAAAAAATCAGTGGTTGCCACGGGTTAAGGAGAGGGAGGGATGAATGCGTGGAACACAGTGAAACTATCCTGCGATAATATGAAGGTGGACACATGTCATTTGGTCAAAACCATGGGGCTTACAACACAAAGAGAAGTGCAGTAATGTAAACTATGGGTTTAGTTAATAATAATATATCGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACAGAGGTGGGTGGAAACACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACGTAGTGAAACCCCATTGCTACTGAAATATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCGACTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAATAATAATAGTAATAATAATAATAGTAACATATCACATTCATTTATCACTTGTCACAAGTGGACCACACAAATCCAACATGCTACTAACAGAGGAAGCTGGCAGGGAGGGGATGCTGAGGGGTGCTATAAGAACTCCATGTCCTTTCTGTTCAATTTTTCTATAAACTTTCAACTGTACTGAAAAGAAGAAGCCTATTCATTTTTTTTAAAGCCCACAGAGGCATCCACCAGACACGTGTAGCTTCTGTCTTCCTCCTTGGTGACTCACATTTTGGCCAGGACATACCCCACAATCTTCCCATTCTCGTCCTCAGCAATGTAAGAGAGCTGGTGACAGGAAAACAGAGTGAGAAAACTTCTTGTCGGAGCTAGAAGAGCCCTTTAGAGGGACACAAACTGGACGAGTGGCGAGTTGTGTGATGGCTCATGACCTCCGGGCTGAGTGGCTTGGTCTCCCCCTCGCCACACTGTGCCCTGCCCATACCCAGAAAGAAGACGCAAAGTGGGGATCCTGCCCCTATTCTCTGCTCCCTTCGGGCGCCTTCTTTTCCTTTGCCCCTGTCTGCCAGCTGAAAACACCCAGGACGCCACCGACCATACAGCCCCCTGGGCTCTGACAGACTTGTCCACTCCCTCCAAGATGGCCAGATGGGATTTTCCTCGGCCTGCTTTCCCCCATGCCCAAATTCAGAAGCTGCCCACCTGGGGCCAGGAAAGGCCATGGTAGAAGTAGTATTTCATCTGGTAGTTCTCGGGCAGGCAGAGGAGGTTGCAGTGCTGCATGTTCATTAGGTCCTCTGGCTGCAGGGAAGGAGGGCAGTGGAACGCGCTCAGTCTAAGGCGGCGGTGACCACGGGTGAGAAGCCTGCTCCCCGTCGGTCTGCTCGGCCCCGCTCCCTCGGGGCTGGGCAGGCACTGTGACGATCTGACTTTGCACAACGCCCGGAGCACAGGAACAGGAGTGGGCGCCCCGGAGGTCCCCGGAGCCCACCCAACGGAGGCCCGACATCACGCAAACAGGAGGGAATCGCAGCCCCGGCCCCGCGCCCCGGCCTCTTCGGCGGGCTGGGCCAGCCCCATAGGTCCAGCGGCCGCAGGCACACTCAGGGCCACCGGGCCGGGCTCGGCCGGGGCCCTCGGGAGCATGCGCGGCAGCCACCCGGCCCGGCGCCCACGCGGCGCGGACAGCCTCCCGCCCCGGGCGCTCACCCTCGGATTGCGGATGTTCATAACGGCGGCGGGGCTCGCGGGTCCCAGCGGATCGTGAAGGCGCAGTCAGCTGCCGCCGCGCTCCGAAGCGACGCCGGGACGGCCGGGGCTGGGACCGGAGCTGGGCTCGCTGGGCGACGGCGGAAGGGGCGGTGCGCGCCGGGCCGGCCACCGGCCGGAAGTGCACGGCCGCCGGGCCCGTCCTCCCGGCCGCTTGGCCAATGCGCGGGACAGGCCAGCGCACGGGGCGGGCCAATGCGCGGAGCCGGTCAGCGCGGGGCGGGCCTGGGGGCGGGGCGGGCGCTGCCCCGGAGCTGGAGCCGGCCCCTCCCTCGGCGCGACAGCCCCCCTCCCGCGAGCCCACAGACGCGCGCACAGCCGCAGGTGGAGCGGACTCAGCCTTTATTCCGCGCCTCGGCAGGCGGGGGTGGGGGCGGGGGAGGGGGCGGGGGCGGGGCGGCTCAGCAGGGCGCCCAGCATCTCCTCGCACATGGCTAGGCACCGCGGCACGTGGAAGCAGCCTGCGGGTAGAGGCGGGCAGGTAGTGAGGGCCGGGGGCAGCCGAGAGGCGCAACCCCTGCGGCCCCGCCCTCTCCCCCACTCACCTTTGAAAGGACCTCCCTTGATGGAGAGGGCCACCTTGCCCTCTCGGCTCAGGTAGCCAAACCATTCCCCGTACTCGGGATCGCGAAACTGGAATAACAGAGACAGTGACAGCTAGCGCCTGCAGGACCCGCCCAGATGCCACTGCATCGCTACCAGGGGTCAGAGCCTGGGTTGACCCCAGGTGACGTGGCTCCAGAACCAGCGATCTTAACCGCGACACTGCGTCCTCCACAAAGATGAAAGCAGGGGTGGGCGCAGCAGGCAGGCTACAACTATATAACCGACTGGGCAAGGGGATGAGACACTGCTAGATGGAATGAAAGAACTCTGCCCTGGGGTGTAGAAACGTTGTCTATCGGGCCGGGAGCTGTGGCTTGCGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGACAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATTAGCCGGACGTGGTGGCACGCACTTGTAATCCCAGCAGTATACTCGGGAGGCTGAGGCGGGAGAATAGCTTGAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCGCTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACGAACAAACAAACAAACAAAAAAGTTCTCTATTGTGATTGTAGTCGTGGTTACGTTGATTCAAAGAAACAAAGAACCCGGCCGGGTGCAAAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCGGGAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAACAAAGAACCCTGATGGAGGCGACGACCTGTCATGAAACTCTTAAGAAGTGACTCCCTTGGAGCTCCCATTCCCGGCTTCACAGGCCTGTCTTCCAGTAGATGCACAATCTCATCTGACTCCTGTCCTGGCTCACCATTGGTCCCAAACTCATCTCCTCCTCCCTCTGCCCCTGCCCAGTGCCCATTCCACTCTCTTTCCTTCTCTCTCCACTAGCATTCCATGGGGCACCTGTCTCAGGGAGGCTTGTCAGTTCAGCCCCTTCTCAAAAGGATCATGGACTCAATTACATTGAAGTCCACTATGAAAATGTCTCTTTAAATGGTGGCCCATAAGAGTTGGTGTATTCTTCTTTGTAGGAAGTAAAACTAGTCCTGGGCTGGGCACAGTGGCTCACGC
Task1_train_31537
This mutation is located in gene HCFC1 (host cell factor C1) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
GATGCCGGGACACAGTGAGACACCTAGTGGTTATTTCAAAAAAAGTCTTTTAATTGTTCAAAATAGCACAAAACGACATCGCACTATGGTAATATTGAGTCACAGGGGTTACTCTACAATAGTGAACGGTGTACTCTCCTCAGAAACAAATCAATAGGCGCGCGAGAGAAGGGATGGGGTAAAACAACAGGACCAGGTGAGTGGGCTCCAAGGTGACTAAACGTGACATTTTCCACAGCGAAATATACTATAATACAACAAACCAGAGGCCCTGGAGGACACAGGCTGCTGCGTCTCCAGGCAGAGGTCGGTAGGGGAGGGCTGGAAAGATTGGCTGCTCGGTTCAAATCCTTCTGACTTGCTGGCAAGCCTTGCTCCTCGACAGAAGTTTGGGGTGGGGGGCAGAAAACTCCAAGCAGATCCCCCAGCCTCGGAGCCTGGCCTGAGTTCCATGCTGCACAGCTGCTGCTGGTGGCCTGCTCCATTGCCCTAGCCTCCCTTGTGGGTGACACTACACAGTCACCCTCCCAAGCTGCCTCCAAGGACGCCTGGTTCCCCTCCATTCTCCACCCTTTCCATGACGATTTGGGGGAGGTGGAGCAGTGGCTGCGGAAACCAGCAGCCCTGTTTGGGAGGCGGTGCCGGTGGTGCTCAGGGAGGGGGCATGGGGAGAGCTGGAAATCCAGGACAAGGAGGCCCCAGCCCTCCCTCAAGCTCCCCTAGGCTCGACCCTATAGATGCGGAGTGATCGCCCATGAGGAATGAGCTGTCCTTCCTTTGTTCCAGCGGCCTGAGGACAGGCAAAAGGGCAGAGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGGCAGTGCGGCCTGCAGGGAGGTCTGCACAGGCGCTGCCCAGGCCGCCGCGGGGCTCCTTGCCCCTTTTTTCTTTTTCCTTCTTTTCTTTTTTAAAATGGGAAAGAAGAGGGGGAGGGTAGAAGAGGTGGGAGCACAAAGGCCTCTGAGAAAATGTGTAAGCTTCCTGTGGGGTCACTGAGCAGGGTGGGCCGGGGGAGCCTGAGGAAGGGAAGTTAGGTGACTGGAAACACAAGGGGAAGAAAAGAAAACAGAACCAGACACCCAGGCCAGGGTGCCAGGAAAGCCACTCTGGGGAGGGCCAAGAGGGACGCCTTTCCTCCCCTCCATGCCTGCCCCCGACCTGGCCCTCAGGAACGCACAGCCTTGGGAGGGCGGAGCTGGCTGTCCTCAGCTCCGCCTTCCCTCCCCGCAAAAGTCTCTCCCCAGGGTGGGCGGCAGCGGGGAGGAAAGGAAGCGCGCTCCTCTCTCTGCTTTCCCATCTGCCTCTGCTTCCTCCCAACAGCAATGGTAAAATGTGCTTTCTTTAGATTATTTTAAAAACAGAGAGAAAGAGAAAGGGGAGAGGAGTGAACAGCGGCTCGCGAGGGTGAAGTGCGAATGCTGGGACGGGGTGGGAGGGGTGGGCCCTGGCGGGTGTTCCTGAAGCAGGGGGGTCTGGAGAAGAATCCAGGGGCTAGTCAGCTTCCTCTCACTGACCATCGGCCTTAGATTTCTTTGGAGCAGATTTCCTTGGAAGGCAGAAAAAGGAAAGAGAAAGTTAGTGTGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCG
GATGCCGGGACACAGTGAGACACCTAGTGGTTATTTCAAAAAAAGTCTTTTAATTGTTCAAAATAGCACAAAACGACATCGCACTATGGTAATATTGAGTCACAGGGGTTACTCTACAATAGTGAACGGTGTACTCTCCTCAGAAACAAATCAATAGGCGCGCGAGAGAAGGGATGGGGTAAAACAACAGGACCAGGTGAGTGGGCTCCAAGGTGACTAAACGTGACATTTTCCACAGCGAAATATACTATAATACAACAAACCAGAGGCCCTGGAGGACACAGGCTGCTGCGTCTCCAGGCAGAGGTCGGTAGGGGAGGGCTGGAAAGATTGGCTGCTCGGTTCAAATCCTTCTGACTTGCTGGCAAGCCTTGCTCCTCGACAGAAGTTTGGGGTGGGGGGCAGAAAACTCCAAGCAGATCCCCCAGCCTCGGAGCCTGGCCTGAGTTCCATGCTGCACAGCTGCTGCTGGTGGCCTGCTCCATTGCCCTAGCCTCCCTTGTGGGTGACACTACACAGTCACCCTCCCAAGCTGCCTCCAAGGACGCCTGGTTCCCCTCCATTCTCCACCCTTTCCATGACGATTTGGGGGAGGTGGAGCAGTGGCTGCGGAAACCAGCAGCCCTGTTTGGGAGGCGGTGCCGGTGGTGCTCAGGGAGGGGGCATGGGGAGAGCTGGAAATCCAGGACAAGGAGGCCCCAGCCCTCCCTCAAGCTCCCCTAGGCTCGACCCTATAGATGCGGAGTGATCGCCCATGAGGAATGAGCTGTCCTTCCTTTGTTCCAGCGGCCTGAGGACAGGCAAAAGGGCAGAGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGGCAGTGCGGCCTGCAGGGAGGTCTGCACAGGCGCTGCCCAGGCCGCCGCGGGGCTCCTTGCCCCTTTTTTCTTTTTCCTTCTTTTCTTTTTTAAAATGGGAAAGAAGAGGGGGAGGGTAGAAGAGGTGGGAGCACAAAGGCCTCTGAGAAAATGTGTAAGCTTCCTGTGGGGTCACTGAGCAGGGTGGGCCGGGGGAGCCTGAGGAAGGGAAGTTAGGTGACTGGAAACACAAGGGGAAGAAAAGAAAACAGAACCAGACACCCAGGCCAGGGTGCCAGGAAAGCCACTCTGGGGAGGGCCAAGAGGGACGCCTTTCCTCCCCTCCATGCCTGCCCCCGACCTGGCCCTCAGGAACGCACAGCCTTGGGAGGGCGGAGCTGGCTGTCCTCAGCTCCGCCTTCCCTCCCCGCAAAAGTCTCTCCCCAGGGTGGGCGGCAGCGGGGAGGAAAGGAAGCGCGCTCCTCTCTCTGCTTTCCCATCTGCCTCTGCTTCCTCCCAACAGCAATGGTAAAATGTGCTTTCTTTAGATTATTTTAAAAACAGAGAGAAAGAGAAAGGGGAGAGGAGTGAACAGCGGCTCGCGAGGGTGAAGTGCGAATGCTGGGACGGGGTGGGAGGGGTGGGCCCTGGCGGGTGTTCCTGAAGCAGGGGGGTCTGGAGAAGAATCCAGGGGCTAGTCAGCTTCCTCTCACTGACCATCGGCCTTAGATTTCTTTGGAGCAGATTTCCTTGGAAGGCAGAAAAAGGAAAGAGAAAGTTAGTGTGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCACTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCG
Task1_train_31538
The gene HCFC1 (host cell factor C1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Inborn genetic diseases
AGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGGCAGTGCGGCCTGCAGGGAGGTCTGCACAGGCGCTGCCCAGGCCGCCGCGGGGCTCCTTGCCCCTTTTTTCTTTTTCCTTCTTTTCTTTTTTAAAATGGGAAAGAAGAGGGGGAGGGTAGAAGAGGTGGGAGCACAAAGGCCTCTGAGAAAATGTGTAAGCTTCCTGTGGGGTCACTGAGCAGGGTGGGCCGGGGGAGCCTGAGGAAGGGAAGTTAGGTGACTGGAAACACAAGGGGAAGAAAAGAAAACAGAACCAGACACCCAGGCCAGGGTGCCAGGAAAGCCACTCTGGGGAGGGCCAAGAGGGACGCCTTTCCTCCCCTCCATGCCTGCCCCCGACCTGGCCCTCAGGAACGCACAGCCTTGGGAGGGCGGAGCTGGCTGTCCTCAGCTCCGCCTTCCCTCCCCGCAAAAGTCTCTCCCCAGGGTGGGCGGCAGCGGGGAGGAAAGGAAGCGCGCTCCTCTCTCTGCTTTCCCATCTGCCTCTGCTTCCTCCCAACAGCAATGGTAAAATGTGCTTTCTTTAGATTATTTTAAAAACAGAGAGAAAGAGAAAGGGGAGAGGAGTGAACAGCGGCTCGCGAGGGTGAAGTGCGAATGCTGGGACGGGGTGGGAGGGGTGGGCCCTGGCGGGTGTTCCTGAAGCAGGGGGGTCTGGAGAAGAATCCAGGGGCTAGTCAGCTTCCTCTCACTGACCATCGGCCTTAGATTTCTTTGGAGCAGATTTCCTTGGAAGGCAGAAAAAGGAAAGAGAAAGTTAGTGTGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGG
AGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGGCAGTGCGGCCTGCAGGGAGGTCTGCACAGGCGCTGCCCAGGCCGCCGCGGGGCTCCTTGCCCCTTTTTTCTTTTTCCTTCTTTTCTTTTTTAAAATGGGAAAGAAGAGGGGGAGGGTAGAAGAGGTGGGAGCACAAAGGCCTCTGAGAAAATGTGTAAGCTTCCTGTGGGGTCACTGAGCAGGGTGGGCCGGGGGAGCCTGAGGAAGGGAAGTTAGGTGACTGGAAACACAAGGGGAAGAAAAGAAAACAGAACCAGACACCCAGGCCAGGGTGCCAGGAAAGCCACTCTGGGGAGGGCCAAGAGGGACGCCTTTCCTCCCCTCCATGCCTGCCCCCGACCTGGCCCTCAGGAACGCACAGCCTTGGGAGGGCGGAGCTGGCTGTCCTCAGCTCCGCCTTCCCTCCCCGCAAAAGTCTCTCCCCAGGGTGGGCGGCAGCGGGGAGGAAAGGAAGCGCGCTCCTCTCTCTGCTTTCCCATCTGCCTCTGCTTCCTCCCAACAGCAATGGTAAAATGTGCTTTCTTTAGATTATTTTAAAAACAGAGAGAAAGAGAAAGGGGAGAGGAGTGAACAGCGGCTCGCGAGGGTGAAGTGCGAATGCTGGGACGGGGTGGGAGGGGTGGGCCCTGGCGGGTGTTCCTGAAGCAGGGGGGTCTGGAGAAGAATCCAGGGGCTAGTCAGCTTCCTCTCACTGACCATCGGCCTTAGATTTCTTTGGAGCAGATTTCCTTGGAAGGCAGAAAAAGGAAAGAGAAAGTTAGTGTGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCTGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGG
Task1_train_31539
Given this context: Chromosome X, gene HCFC1 (host cell factor C1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX
AGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTGGTACAAGAGCGACATCTGGCGTCTGAGTGTGGAACTGCACGGGCGTAGGCCGGGAAGGCGGGGAAGAACACGGCCCCCTGGGCTCTTACCGGCACAGAGGGGCCCGGGACCGGTGTGGACTGCGTCACGGTGGTCACAGCCCGCGTCAGTGTGGAGGACACGGTTGTCGTGATGGCACTGGAGCTGGTGATGTTCACGCTGTCGCCCTGGGTGCTCTCCACCTCTCCCTGATCGCTGGCAGCAGGTGGGGGGTCTGTGGGGGCGACAGGCAGGCGGCTGCTCAGCAGGAGCCCCCCCGGCCTGTACTTGGCTTGACCACCACAGGCTTCCTCTACCACCAAGGGGAGGGCCAGATAAGGCAGGACAGGCTCCTGGAGACCTCTGTCTGCTTCAGGTACAGCCAGGACGCCCCAGCTCTCCCCACTGGTAAATTGGGTGCCAAGGAGCCTGACTGGTGGACTCTGGACGGACCCCCGCCATCGTTGTCTTGGCCTTTCAGCCTGGGGGGCTGGGAGACCATGAAAGCCAGGCTGGCCACCTTCACTTACCTTGGTTTGAACTCATGTTGGAAGTGACAGTGGTG
AGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGCGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTGGTACAAGAGCGACATCTGGCGTCTGAGTGTGGAACTGCACGGGCGTAGGCCGGGAAGGCGGGGAAGAACACGGCCCCCTGGGCTCTTACCGGCACAGAGGGGCCCGGGACCGGTGTGGACTGCGTCACGGTGGTCACAGCCCGCGTCAGTGTGGAGGACACGGTTGTCGTGATGGCACTGGAGCTGGTGATGTTCACGCTGTCGCCCTGGGTGCTCTCCACCTCTCCCTGATCGCTGGCAGCAGGTGGGGGGTCTGTGGGGGCGACAGGCAGGCGGCTGCTCAGCAGGAGCCCCCCCGGCCTGTACTTGGCTTGACCACCACAGGCTTCCTCTACCACCAAGGGGAGGGCCAGATAAGGCAGGACAGGCTCCTGGAGACCTCTGTCTGCTTCAGGTACAGCCAGGACGCCCCAGCTCTCCCCACTGGTAAATTGGGTGCCAAGGAGCCTGACTGGTGGACTCTGGACGGACCCCCGCCATCGTTGTCTTGGCCTTTCAGCCTGGGGGGCTGGGAGACCATGAAAGCCAGGCTGGCCACCTTCACTTACCTTGGTTTGAACTCATGTTGGAAGTGACAGTGGTG
Task1_train_31540
This variant impacts the gene HCFC1 (host cell factor C1) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX
GAAGAGCCCCTGCAGGGTGGACAGGAAACCACCCACATGGCTGCCTCTGAGAAGCAGAACCGGAGAACCGGGAGGAGGGAAGGAGGCCCTGCACCGTAGAGGCTTTTGCACTTTTGGATGTTGGGCCATTTGGATGGAGAGCTCATTCAAAAAACTCAGAGGCGGAACATTGCTTCAGAGAGCTCTGCCCACTGGATCCTTCCAGTGGATTCCAAAGGGAGCCGGGGGCCCAGCTTGCTCCCCGCACACCCCACACAGCTCTTAGGCTGAGAAGGGCCAGCCTCCTGCAGCCTCCCACAGGCCACTCGGAGCCCGAGGAGGCCATACCCAGGTTGAGACAAGCCAGCGTGTTGGTACACTTCCACTCCTTCTCGTGTGTGGCCACTTTGACGTCATCCATGACGAGAGGCACCCAGCCACCAAACACGTACATTCTGGGAGTGAGGAGGGAAGAGTGGGAAAGGATTGTAGAGTTGGTGCCAAGCTAGAGGCCACCTCTGCTACCCCAGTTCTAGAGCTCAGTCCTCTGGCTCTCCCCAGGAGAGTCCCCAAGGATGCGTGAAGCCTCCTGACGTGGCCCTCTCCTGCCTGGTGGCTCAGCCCTCAGGAGAACTGTGTCACCTCTACCACATAAAAGTGCCGTTCAGCTCATCTAAAGCTCACCTTCATGTCCACAGTTTCTAGGTTCCCTTTAGGACCTGGACATCCACAAAGACACCCAGGTGCTTGCACAGAGGACCTAGAACACTCTGTACCTGATAGGGCGGAGCCTCACAGGCCCGGGGAGGGTCTCAGACTCAGCTTGTGTGTGGCCCTCTCCCCCCTGAATCTGTCTTTCCTTGGTCCCCCAGGGTCGTAATGGAAAAACAGGGCTGCCAAATGCCAGCCCAGCCAGAAAGAGGCATCCTCAGGCCTTAGGGTCTGACAGGACAAAACTGAGTGAGAGCCCTTCGGGGGAGGGGCCACGCCAGTCTAGAGAAGAGAGACGCAGGTGAGCAGCCACTTACTTATTTCCGATGGTGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAGGACTGCACTCTGTGCTGGGGGAGGAGTGGTGGGCACACCCCGAACTCTCCATGAAATACGTTCACCGCCATAACCACCTTAGGCTACAGACATTTTGGCAAACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCACTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCGCCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGCTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACA
GAAGAGCCCCTGCAGGGTGGACAGGAAACCACCCACATGGCTGCCTCTGAGAAGCAGAACCGGAGAACCGGGAGGAGGGAAGGAGGCCCTGCACCGTAGAGGCTTTTGCACTTTTGGATGTTGGGCCATTTGGATGGAGAGCTCATTCAAAAAACTCAGAGGCGGAACATTGCTTCAGAGAGCTCTGCCCACTGGATCCTTCCAGTGGATTCCAAAGGGAGCCGGGGGCCCAGCTTGCTCCCCGCACACCCCACACAGCTCTTAGGCTGAGAAGGGCCAGCCTCCTGCAGCCTCCCACAGGCCACTCGGAGCCCGAGGAGGCCATACCCAGGTTGAGACAAGCCAGCGTGTTGGTACACTTCCACTCCTTCTCGTGTGTGGCCACTTTGACGTCATCCATGACGAGAGGCACCCAGCCACCAAACACGTACATTCTGGGAGTGAGGAGGGAAGAGTGGGAAAGGATTGTAGAGTTGGTGCCAAGCTAGAGGCCACCTCTGCTACCCCAGTTCTAGAGCTCAGTCCTCTGGCTCTCCCCAGGAGAGTCCCCAAGGATGCGTGAAGCCTCCTGACGTGGCCCTCTCCTGCCTGGTGGCTCAGCCCTCAGGAGAACTGTGTCACCTCTACCACATAAAAGTGCCGTTCAGCTCATCTAAAGCTCACCTTCATGTCCACAGTTTCTAGGTTCCCTTTAGGACCTGGACATCCACAAAGACACCCAGGTGCTTGCACAGAGGACCTAGAACACTCTGTACCTGATAGGGCGGAGCCTCACAGGCCCGGGGAGGGTCTCAGACTCAGCTTGTGTGTGGCCCTCTCCCCCCTGAATCTGTCTTTCCTTGGTCCCCCAGGGTCGTAATGGAAAAACAGGGCTGCCAAATGCCAGCCCAGCCAGAAAGAGGCATCCTCAGGCCTTAGGGTCTGACAGGACAAAACTGAGTGAGAGCCCTTCGGGGGAGGGGCCACGCCAGTCTAGAGAAGAGAGACGCAGGTGAGCAGCCACTTACTTATTTCCGATGGTGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAGGACTGCACTCTGTGCTGGGGGAGGAGTGGTGGGCACACCCCGAACTCTCCATGAAATACGTTCACCGCCATAACCACCTTAGGCTACAGACATTTTGGCAAACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCATTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCGCCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGCTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACA
Task1_train_31541
A variant found in Chromosome X affects HCFC1 (host cell factor C1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX
TGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAGGACTGCACTCTGTGCTGGGGGAGGAGTGGTGGGCACACCCCGAACTCTCCATGAAATACGTTCACCGCCATAACCACCTTAGGCTACAGACATTTTGGCAAACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCACTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCGCCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGCTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACATTCTTGCAAGCCAGAGGCAGCAGTCTCAGCAGAGCTGTGACAGAAGCTTCTCAAAAGCTCATGAGGGTGAGGCGACCACCAAGAAAGAGGGAAATCAGACCTTAGGCACTGCTTTGCTTCCACAGGATGGCACAGCAGCCTTCAGCTGGGACCAGGCCCCTCCCTCATGTCCTCAAACTTGACTCCCCTCACACCTGGCAGGCCAGGGCTTCCCCGAAAACCTCCTCCTATGAGGGGTCCCTCAGAGGATTCACCACACTCTTTCCAGAAACCCCAAACTGGGGGCCAGGTGCAACCCCGACTCTGTGCCTCTGAGCTGGCCTGGGTGAGATCTCAGCAAGCAGACGGCAGAAGGAACTGAGGCCCCTCCACATGACTCAAGACGCAAGATGGGTCCCCCAGGACGTGACAGGGCATGGGGGGATTCCTGTGGGGTGGGAAGGCTTCCACACAGGGATGCTGTGATATTGTGATATAATACAGACTATTCAGTTTGGTGGCCAAAAGTGTTGTGAGACCATAGAAGAGGAAAAACAGTGTTTTTTTTCCATATTCAGGTGTGCACCCAGGGCCAGGCGGCTGACCATGGTTGGGAATGCATGCCCCACTGCACTCTGGTCCCACCCAGTCTCACACTGTCACCCCCAGGGCTCAATGCGGAACCGTGTGCAAGGCTAGCCCTTATCCAAAGCACAACTCCCAGCCTGGGTAGCACAGGGAGACCCCGTCTCTACAAATAATTTTAAAACACTGGCTCAGTGTGGTGGCATACACTTGTGGTCCTAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCCTGACCCTCAGAGTTTGAGGCTGCAGTGAGCTGAGACCGCACCACTGCATCCCGGCCTGGGCAACAGAGCAAGACCTAACCTCAAAACAAACAAACAAACAAAAAAAACAGAAAACCCCACACAGCACAACTGTACCACCACCGCTCCTCCTGAGGCGAGAGCACCCCCACCCCGCTCTCCAGCACCCACTCTGCGGGTAGGCT
TGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAGGACTGCACTCTGTGCTGGGGGAGGAGTGGTGGGCACACCCCGAACTCTCCATGAAATACGTTCACCGCCATAACCACCTTAGGCTACAGACATTTTGGCAAACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCACTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCACCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGCTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACATTCTTGCAAGCCAGAGGCAGCAGTCTCAGCAGAGCTGTGACAGAAGCTTCTCAAAAGCTCATGAGGGTGAGGCGACCACCAAGAAAGAGGGAAATCAGACCTTAGGCACTGCTTTGCTTCCACAGGATGGCACAGCAGCCTTCAGCTGGGACCAGGCCCCTCCCTCATGTCCTCAAACTTGACTCCCCTCACACCTGGCAGGCCAGGGCTTCCCCGAAAACCTCCTCCTATGAGGGGTCCCTCAGAGGATTCACCACACTCTTTCCAGAAACCCCAAACTGGGGGCCAGGTGCAACCCCGACTCTGTGCCTCTGAGCTGGCCTGGGTGAGATCTCAGCAAGCAGACGGCAGAAGGAACTGAGGCCCCTCCACATGACTCAAGACGCAAGATGGGTCCCCCAGGACGTGACAGGGCATGGGGGGATTCCTGTGGGGTGGGAAGGCTTCCACACAGGGATGCTGTGATATTGTGATATAATACAGACTATTCAGTTTGGTGGCCAAAAGTGTTGTGAGACCATAGAAGAGGAAAAACAGTGTTTTTTTTCCATATTCAGGTGTGCACCCAGGGCCAGGCGGCTGACCATGGTTGGGAATGCATGCCCCACTGCACTCTGGTCCCACCCAGTCTCACACTGTCACCCCCAGGGCTCAATGCGGAACCGTGTGCAAGGCTAGCCCTTATCCAAAGCACAACTCCCAGCCTGGGTAGCACAGGGAGACCCCGTCTCTACAAATAATTTTAAAACACTGGCTCAGTGTGGTGGCATACACTTGTGGTCCTAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCCTGACCCTCAGAGTTTGAGGCTGCAGTGAGCTGAGACCGCACCACTGCATCCCGGCCTGGGCAACAGAGCAAGACCTAACCTCAAAACAAACAAACAAACAAAAAAAACAGAAAACCCCACACAGCACAACTGTACCACCACCGCTCCTCCTGAGGCGAGAGCACCCCCACCCCGCTCTCCAGCACCCACTCTGCGGGTAGGCT
Task1_train_31542
The gene HCFC1 (host cell factor C1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX
AACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCACTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCGCCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGCTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACATTCTTGCAAGCCAGAGGCAGCAGTCTCAGCAGAGCTGTGACAGAAGCTTCTCAAAAGCTCATGAGGGTGAGGCGACCACCAAGAAAGAGGGAAATCAGACCTTAGGCACTGCTTTGCTTCCACAGGATGGCACAGCAGCCTTCAGCTGGGACCAGGCCCCTCCCTCATGTCCTCAAACTTGACTCCCCTCACACCTGGCAGGCCAGGGCTTCCCCGAAAACCTCCTCCTATGAGGGGTCCCTCAGAGGATTCACCACACTCTTTCCAGAAACCCCAAACTGGGGGCCAGGTGCAACCCCGACTCTGTGCCTCTGAGCTGGCCTGGGTGAGATCTCAGCAAGCAGACGGCAGAAGGAACTGAGGCCCCTCCACATGACTCAAGACGCAAGATGGGTCCCCCAGGACGTGACAGGGCATGGGGGGATTCCTGTGGGGTGGGAAGGCTTCCACACAGGGATGCTGTGATATTGTGATATAATACAGACTATTCAGTTTGGTGGCCAAAAGTGTTGTGAGACCATAGAAGAGGAAAAACAGTGTTTTTTTTCCATATTCAGGTGTGCACCCAGGGCCAGGCGGCTGACCATGGTTGGGAATGCATGCCCCACTGCACTCTGGTCCCACCCAGTCTCACACTGTCACCCCCAGGGCTCAATGCGGAACCGTGTGCAAGGCTAGCCCTTATCCAAAGCACAACTCCCAGCCTGGGTAGCACAGGGAGACCCCGTCTCTACAAATAATTTTAAAACACTGGCTCAGTGTGGTGGCATACACTTGTGGTCCTAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCCTGACCCTCAGAGTTTGAGGCTGCAGTGAGCTGAGACCGCACCACTGCATCCCGGCCTGGGCAACAGAGCAAGACCTAACCTCAAAACAAACAAACAAACAAAAAAAACAGAAAACCCCACACAGCACAACTGTACCACCACCGCTCCTCCTGAGGCGAGAGCACCCCCACCCCGCTCTCCAGCACCCACTCTGCGGGTAGGCTTCGAGCAGGCTGACAGCCTCTGCAGCCATTCAGCTGAGTCACTGGGCCTCGGACATGCCGAGCACTAGAGCTCCCCTGCCATTTCCCTAAAGCAGAGGGACAACACCTGTGCCGCCCGCATGTGCAAGCTCGGATCCTGGCCCTCTGCCTCTTTCTCATTCCCAGTGCAAAAACCACCCCAGAAAAGCAAGAGCTGCCAAGGCCAACAGCCTTGCGCACTGGAGAGCCGTCCTGACCAATCCCTGGAGGGAGCTCCATGCAAGCTACCAGGGTAAACGCATAACGAGACCTAAGGCTGCCTGGGCCAACTGCTCTCGGTAGGTAAAGGGGCAGAGCCCAGGAGGGCAAGCGACACCTGAGGTCACAGCGTAAAACAGAGACAGAGACAACAGCCCCATCACTGACTTGAAGCAACCGATC
AACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGACTTATTCTCTTATAAGCCCGCAGACCAATTCAGCCCACTCAGCCAGCACAGGGCAGAGATAACAGCCCCAAACCTAGGGACGATCCAGGGTTCCCCACCCTGGCCCACCATGACAAGAGGAAAGCACGAAGTGGTATGCTCCAGCTCCCTAAGAGCCCCACCTCACCATACAACAGCGCCACCCACGGGGCCAGCCAAGAGGCAGACCCGCTTTGTCCCATGGCTGCTGGGGTGCTACCACCCTGCTCACCAATATCTAGGGTCCACAGGTCCCCCAGCCTGCAGCCACTCATCCCGCCGTAGATCACCAGCTTGGACTTCTTATTGTCTTTTTCGGTGTAGACCACGGCAGTATGTGACTCCCGGGGTGGTGGTAGGACCCCGTAAGTGATGGGAATGTCCCAGGCTACCACTCCAGAGCCTGGCCGTAATTCCAGGATATATAAGTCATTCAGGTACCTGACGAGGAAAGATCAGTTACGGCAAGTCTCGACTCCTCACGCCAGAGGCTTCGCTGGATGGCTATCAGTGAGTGGCAGCCTCCCCAGAACACAAAGGGGCTAGGGCTGTGGGAGCTCTGAAGTTCTTCTACCCTAGCTCTTGAGGAAGGGGCTGCCAGAAGCTCCCTAGGATGAGTCCAACTGGAACAGGGGACACAGGGTGGGTGAGGCTGCACAGCAGCCCCGAGTCCAGACCCAGCAGCAGGCCCCCGCCATGCACACAAAGCTGGGTATTATATGAGGGCTCCGCAGAGCAAGAGGGGGCGCTGGCTTGGGACTACCTCCAGACAGAGAGTCCTTGGCCACGGGCCTTGGAAAATACCCATCAGGAAACTTGTAGGCAGCGGAGGCTGAGAAGGAACGCGAGCAGCTCTAAGCCGACTCCGAGAGCTGGGCCAGCCCAAGGCAAAGTGGCTTCCACCTCCAGCTTGGCCCTCCTCCCACGAGGCCTGCTCAGGGTCAGTAGCGATTTTGGAGCCCGAAAGCTCCTGAGAGGGCATCCGGTGCCGCTCTCTCATTTACAACCCAGCACGAGAAAGGGACCCGGCCACGGGGCTCTGCTGCGCACATTCTTTAGGACACCATGGAGCCCTGTGCATGTGAGAGCACACCCACCCGGGGGGTTCCAGAGAAAAGGACCAAGCCTCACCTTGGAATGTTGTTCTTTGGGTCCTCGCTATCATTGGCCAGACCCCCAAACAGGTAGCATTTGTTGCCCACAAGGGAGAAGCTGTGCCCGAGTCGAGGACACGGAGGGGGCCCGTTTTTGGGCGTCTTTGCTTTGAGTCTCTTCCACTCCCACCGGCTCGCCTGCAAAATCAAGACCTGGAGACTGAACCGTGGGATGAGAAGGCCACCACTAGGGACCCGGGGCAACTTGTGGTGGAGGAGGAAATGGCCGGGGGTGAGCGAGGTGCCTTGCTGGAGCAAGAAGGTCCTGGGTGTTGGTCCTTGCTGCCTTCTTCTGAGGTGGGCCAAGTTCAGAGCAGCCTTGGCAGACTCTCAAGCGTCCCTTCCACCTCCCGCTTGCCTCAACCCTGAAGCCACTACCGTCAGGTCACATGGGGCCAAGGAGGCAGAGTGAGAACCTGGGGCTGCTTTACCTGGAGTTCGTAGAGGTCATTGCTGTATTTCCCATACTCCACCATCCCACCAAACACCAGGAGGCGAGTCCCGTCACACACGAAGCCATAGGCTGCACACCCAGGGGGAATGTCCCCCCTCACGGTTGGGATGAACCACTGGTTGGTTGCTGGGGAACAGAAGGAGGCAGAAGTCAGAACACCCGGGAGCCCCCATTCCTCTCATTCCCCAAATGTGCCAGCCGTCAAGCTTGGTGAGAGGGGCTGAGCCAGCACCATCCCTGCGGGCGCTCTAGCAACTCCAGCTGCGCTACCTGGGCCATCTTCCAAACCCCTCGACTTCAGGCCAGTGCAAAAGAGCCTGTGACCACCCTGCTTCTCGCCAAGGTCATCTTAATGAGCGGGAAGTTACTGTGCAAGATCCCTCATCAGCTACTGGGAATCTAGCCACTGCCTTCCTTCCCTAGCACTCAGTGATCAGACATGAATTTCTCCCCAAAATACCCTCTTGGTGGGCCTGTGCTCCTCCTCCCTGGAGCCCACATTTTTGTCCCTTCATCACAGGGTCAGGACAGCCAGAGCCCAGAGCAGCACTTTCAAGTGGCCAAAACAGTGACCGCTGCAGGCTACGAAGAGCCATGGGGATGAGACCCGGCCTCTGCTCTGACCTCCCGGACTTCCTCTGGTCTCCTAGGTGATGGTCCACCAGCATCCCTCCCTGCCCCTGCTGCCACACCTATGGTACTCCAGAACATTCTTGCAAGCCAGAGGCAGCAGTCTCAGCAGAGCTGTGACAGAAGCTTCTCAAAAGCTCATGAGGGTGAGGCGACCACCAAGAAAGAGGGAAATCAGACCTTAGGCACTGCTTTGCTTCCACAGGATGGCACAGCAGCCTTCAGCTGGGACCAGGCCCCTCCCTCATGTCCTCAAACTTGACTCCCCTCACACCTGGCAGGCCAGGGCTTCCCCGAAAACCTCCTCCTATGAGGGGTCCCTCAGAGGATTCACCACACTCTTTCCAGAAACCCCAAACTGGGGGCCAGGTGCAACCCCGACTCTGTGCCTCTGAGCTGGCCTGGGTGAGATCTCAGCAAGCAGACGGCAGAAGGAACTGAGGCCCCTCCACATGACTCAAGACGCAAGATGGGTCCCCCAGGACGTGACAGGGCATGGGGGGATTCCTGTGGGGTGGGAAGGCTTCCACACAGGGATGCTGTGATATTGTGATATAATACAGACTATTCAGTTTGGTGGCCAAAAGTGTTGTGAGACCATAGAAGAGGAAAAACAGTGTTTTTTTTCCATATTCAGGTGTGCACCCAGGGCCAGGCGGCTGACCATGGTTGGGAATGCATGCCCCACTGCACTCTGGTCCCACCCAGTCTCACACTGTCACCCCCAGGGCTCAATGCGGAACCGTGTGCAAGGCTAGCCCTTATCCAAAGCACAACTCCCAGCCTGGGTAGCACAGGGAGACCCCGTCTCTACAAATAATTTTAAAACACTGGCTCAGTGTGGTGGCATACACTTGTGGTCCTAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCCTGACCCTCAGAGTTTGAGGCTGCAGTGAGCTGAGACCGCACCACTGCATCCCGGCCTGGGCAACAGAGCAAGACCTAACCTCAAAACAAACAAACAAACAAAAAAAACAGAAAACCCCACACAGCACAACTGTACCACCACCGCTCCTCCTGAGGCGAGAGCACCCCCACCCCGCTCTCCAGCACCCACTCTGCGGGTAGGCTTCGAGCAGGCTGACAGCCTCTGCAGCCATTCAGCTGAGTCACTGGGCCTCGGACATGCCGAGCACTAGAGCTCCCCTGCCATTTCCCTAAAGCAGAGGGACAACACCTGTGCCGCCCGCATGTGCAAGCTCGGATCCTGGCCCTCTGCCTCTTTCTCATTCCCAGTGCAAAAACCACCCCAGAAAAGCAAGAGCTGCCAAGGCCAACAGCCTTGCGCACTGGAGAGCCGTCCTGACCAATCCCTGGAGGGAGCTCCATGCAAGCTACCAGGGTAAACGCATAACGAGACCTAAGGCTGCCTGGGCCAACTGCTCTCGGTAGGTAAAGGGGCAGAGCCCAGGAGGGCAAGCGACACCTGAGGTCACAGCGTAAAACAGAGACAGAGACAACAGCCCCATCACTGACTTGAAGCAACCGATC
Task1_train_31543
This mutation is located in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCT
CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTCCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCT
Task1_train_31544
A variant was discovered on Chromosome X, affecting MECP2 (methyl-CpG binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Rett syndrome
CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCT
CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTCCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCT
Task1_train_31545
The variant affects gene MECP2 (methyl-CpG binding protein 2), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Rett syndrome
CTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGA
CTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGAGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGA
Task1_train_31546
This variant affects the gene MECP2 (methyl-CpG binding protein 2) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Rett syndrome
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGACTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
Task1_train_31547
Located on Chromosome X, this mutation impacts MECP2 (methyl-CpG binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGACTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
Task1_train_31548
A variant was discovered on Chromosome X, affecting MECP2 (methyl-CpG binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGCCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
Task1_train_31549
Mutation context: Chromosome X, Gene MECP2 (methyl-CpG binding protein 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Rett syndrome
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGCCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGAT
Task1_train_31550
An alteration has been detected in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Rett syndrome
CCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAA
CCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCAGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAA
Task1_train_31551
Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Rett syndrome
GAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGA
GAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGAGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGA
Task1_train_31552
A change on Chromosome X affects gene MECP2 (methyl-CpG binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Rett syndrome
AGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAG
AGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCACTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAG
Task1_train_31553
This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGG
GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCCTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGG
Task1_train_31554
Given this context: Chromosome X, gene MECP2 (methyl-CpG binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Rett syndrome
GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGG
GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCCTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGG
Task1_train_31555
Given this variant in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCT
CTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTGGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCT
Task1_train_31556
Given this context: Chromosome X, gene MECP2 (methyl-CpG binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Rett syndrome
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGAGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
Task1_train_31557
Here is a genetic alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Rett syndrome
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGTGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
Task1_train_31558
This variant impacts the gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGTGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTT
Task1_train_31559
Here is a variant affecting MECP2 (methyl-CpG binding protein 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Rett syndrome
AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTG
AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGCGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTG
Task1_train_31560
This mutation is located in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; X-linked intellectual disability-psychosis-macroorchidism syndrome
AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTG
AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGCGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTG
Task1_train_31561
The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Rett syndrome
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAAGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31562
A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAAGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31563
The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31564
This sequence change occurs on Chromosome X, altering MECP2 (methyl-CpG binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Rett syndrome
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31565
This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Severe global developmental delay
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31566
Consider a variant on Chromosome X in gene MECP2 (methyl-CpG binding protein 2). Determine its clinical classification and disease relevance.
Pathogenic; Irregular respiration
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31567
A sequence alteration has been identified in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it disease-inducing or harmless?
Pathogenic; Developmental regression
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31568
A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Absent speech
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31569
This alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Seizure
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAACGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACA
Task1_train_31570
This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Rett syndrome
AGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAG
AGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGTCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAG
Task1_train_31571
Gene MECP2 (methyl-CpG binding protein 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Rett syndrome
AACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGA
AACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCAGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGA
Task1_train_31572
A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Rett syndrome
GGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCA
GGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCCCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCA
Task1_train_31573
Here is a genetic alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Rett syndrome
GACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATA
GACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGCGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATA
Task1_train_31574
With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Rett syndrome
ACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATAC
ACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTCAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATAC
Task1_train_31575
This alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATC
AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAACTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATC
Task1_train_31576
The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Rett syndrome
AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATC
AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAACTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATC
Task1_train_31577
The gene MECP2 (methyl-CpG binding protein 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Rett syndrome
AATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCC
AATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGCCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCC
Task1_train_31578
This sequence variant lies in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Rett syndrome
GTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCT
GTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAGAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCT
Task1_train_31579
A variant was discovered in gene MECP2 (methyl-CpG binding protein 2), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Rett syndrome
TCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGG
TCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTACGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGG
Task1_train_31580
This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Rett syndrome
TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGG
TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGCACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGG
Task1_train_31581
A genomic change on Chromosome X affects MECP2 (methyl-CpG binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGG
TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGCACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGG
Task1_train_31582
This sequence change occurs on Chromosome X, altering MECP2 (methyl-CpG binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Severe neonatal-onset encephalopathy with microcephaly
ACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGT
ACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACCCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGT
Task1_train_31583
With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Rett syndrome
GACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTC
GACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTCAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTC
Task1_train_31584
This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Rett syndrome
CTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTG
CTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAAAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTG
Task1_train_31585
Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Rett syndrome
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGAGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
Task1_train_31586
A variant has been detected on Chromosome X in MECP2 (methyl-CpG binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Rett syndrome
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGGGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
Task1_train_31587
A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Rett syndrome
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGTGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTG
Task1_train_31588
A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Rett syndrome
ATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGA
ATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCAAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGA
Task1_train_31589
Given this variant in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Rett syndrome
GCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAA
GCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGTCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAA
Task1_train_31590
This sequence variant lies in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Rett syndrome
AAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCT
AAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGAGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCT
Task1_train_31591
A mutation in MECP2 (methyl-CpG binding protein 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Rett syndrome
TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTT
TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATAAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTT
Task1_train_31592
This mutation occurs in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Rett syndrome
TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTT
TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATGAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTT
Task1_train_31593
A mutation in MECP2 (methyl-CpG binding protein 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Rett syndrome
TCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATG
TCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACATATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATG
Task1_train_31594
Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Rett syndrome
AATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGA
AATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGTGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGA
Task1_train_31595
A variant on Chromosome X in gene MECP2 (methyl-CpG binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
CCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCAT
CCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTCAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCAT
Task1_train_31596
A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Rett syndrome
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAAGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
Task1_train_31597
This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Rett syndrome
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCACGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
Task1_train_31598
The gene MECP2 (methyl-CpG binding protein 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Rett syndrome
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCATGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTC
Task1_train_31599
With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Rett syndrome
TTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCA
TTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGACAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCA