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_31400
A variant on Chromosome X in gene GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Inborn genetic diseases
ATTCAGAAAGGGTTTAATAAACAGCAGCTAAACATTGCACCAAAGCATTTGGAAACACAATTTCTACAGAGAGGCAAAGATCAGGCTTCCATTCTAAGTTCCTTAAGACAACCATTAACAGCCCCGCCCTCCCACCCCCCATATCCCCACATATCCACAAGACTACACTCTTCTAGTCATGAATTTACCTACAGACACAGTCTTAGGAATAATGGGACGGGCATGCATTATCCCAGCAATGGCAAGGAAGCAGGGGACGGGGAAAGGATGGATGAAAAGGCAACCAGCAGCTAATGATACACCCCTTAGGAGCTTTGTTCAGCCGGTGGGCAGGGAGAATCTGCTTGTGGTGCCCTCTGTGGCTTTACCCTGGGCTTCTAGGATACTCTGGACTAGTGCAGGTATTCAGAGCCAAAGTGGCTGGGGCTGCCATCATAAACAGTCTCATTCTCTTGGGCTGAGACTATTAAAAGTGATCTTCTTGGGTGACACATTGTGACTTTCTAAAAACCTTTTTGGTGCCCAACCAAGTTCCACTAGTGACCCAGAAGGCCCGCTGAGATTGTGCTGATTCTGAGGTCACGGTGGACCTGGCTTCTCAGTCCTTTATTTTGGCCTTTGGAAAGGGGCGCACGATAGCTCTTTATTAAAGACACTTGTAAGGAGCCTAGGCAAATCATTCAAACTTCTGGGATTCAGTTTATCTACCTTATAAAAATTGCGTATTTATGCCTGTGTCTTTTACTCACATTAAGATTAAGAACAAATGGCCTCTAAATAATATATTATAAAATTGGCAATAAAGTTAATGATCTAGTTGACTCAATATTGACTAGAGATATTTATTTGTATGAATTTCCAATTCACCCCTCATAGAATCGGCATCAACAGAGGACCGGAGGTTCCCGATATGGTGGGAGAAAAGTGCCTGGGCCAGGGTGTGGAATGTGGAGTGTATGGAAGGAAGAATTTGACTTTCATCTGCCAGTAGCCTTCTCTTTTGAGCCAGACTTCAATCCTCAACTACCATCCACTCCAAACCTCTTACCCAATCCAGTATAGGCTAGTTGCCTTGGCAGGGAGGTGACTTTTGTATCTCTCCCATATTTTAAAAAAATGTTTTTTTTAAATCTAGATCACTTTGTTTCTATTTGCAACTTTTCGATATAAATAAAAAATGCTTGATCATTTTTTCCTGAAAAGTTTACAGGTGGTAATGAGTCCAAATTAAGTAGTGCTCAGTTGGCTACAAGGGTGCCAAAGGCAGTGGGGGAAGAAGATTTTCTGGAGGAGAGATGTACCAAGGAGGGGACTATTTTCCCGAGGGGCTGGACATGGCAGGGCACCAGCCATCTTGGTGCCAGGCTGGCAGAGCTAGTTCTATTTATTTTGGCCATACATGGTAGACGGTGGTTAGTACCAATTGTCCCCACTAATTTCCAAACCAATAAATGGGTTGGGGGTGTAGAACTGGCTCCCACCTTTGCTATCAGTACTTATGCCTAGTAGGCCTTGCTGAAGGCAGGGGAGGTGGCACGCAGGATCACATGGCCTAGCCTAACCTGGCTGCCTAGTAAGTTAGAGTCATCTGATCTAGATGGGAGTCAACAATTCTCCTTGTTCTGGGCCTCTCAAACAGCCAAGGCTTCCACTATGGAGAGTAGAATCTCTTGTTCTTTTTGCAGCGGGCAGAGTGCAATAAAATACATGCAGTGCCCTCAGCTAGGGGAGATTGGCAGACTAAGATGAGCAACTGGACAAATGGCAGTGTTTGGCTTTGATGGGGTTATACTGGGCAATATTGGAGGGACAAGTAATTTTTCTGTAGTTATTTTTTGCGTAGAGATTCATAAATATGAATTGAGGGTCACAGCTTGGTAGAGGGGTAAAAAGGAGAATCCTGAAATACGCGAAGGGGAGCCCCGGGGTTTGGGTGCCTGGATGCTTCACGGGGTATACAGTGCTCTGGTTGCTGCACTGCCACCACTATCTACTGTTTGCGGATCATGCCCTTGATAGCTGACTCCCGGTTGACATATGTGGCCCAATAGACCAGATTGAATATGGCAAAGAGCACAGGAAAGATGATGCGGGAAATTTTGTCAACCTTGCTGACACTGTTGTAGGTCTTGGTCTCAGTCGGGCTGTCCTGCACGTAGGTGGCCTTGGGTGAAGCAATGATTGTTGGGGTTGAGGAGGCACTGGGAGCAGCGCCCTTGGAGATGGTGGAAAATTCAGTGTCCTTGGCCAGGTTGATGGGATAGGTGGTCCCCACGATGTTGAAGGTAGTGCTGGTTTTCTTTGCTGGGGCTGCTGGTGTTTTCTTCTAGAGGCCAGGAAAAAGAGGGGGGGAAAGGGAGAAAAAAGCAAAGCTAATTAATTCATTACACAGAGAACCTTCAGAGGCTGCAGGGAGGAGGAGCCATGAGGGAAGTTAAGGCACAGGGGCCATGTAGCCAATAGCACTAGTAACCAGGTTTGTGTCAAGGAATAACTGAAGATGAGTATGAAAAGAGAAAACGTGCATCATCCTGGCTCACGAGCTATGTCGCTTTGGCTAAGTCACTTTTCCTCTTCATGCCTCAGTTTCTTCATCTGTAAAATGAGGATCAAAATAATTTTCAGGATTGTTGAGAGGATCAGATAAGAGAATGGAGCTAGAAATCGCCAATAAACTGTGGAATGTTGGTCACATGTGGAATCTTATACATCATGTGATTCGATCCTCAGAGCAACCCCTATGAGGTAGGTGGATGAGATTACTCCCATTTGACAGATGAGAAAACTCAGCCTCAGACTAAGTGGCAGAGCCTAACTTGCAATCTGGGTAAGAGATTTTTATCTAGGGCTACACTGTGCTGCTTTCTATAGGCCCCGGACACTTTTTGGTTACCCAAGAAATAACTCCAGAAGGCCGTGACCATCAAGTGGCACATCTCCTGTGAGGAAGAGAGCTTGGTGAGTCTGAAAAGTCATTTTGTCATAAAGACAATACATACCATGGCATGTTGACATGCATCATTACAACAGCTTCCCACCCTTCATGCAGTGTAACTGTTCAGCAAGCTCAGGAGCGGGCCAAGGCTTTCCACAGAGCTATGTAAAAGACTCTCTGACATAGCAAAGGCAGAGATAGATGCGGAGTTGCTATGTCACTGCCCTTTGGGCTTATTTTTAAGAGTGAAAGAAACTCAAACACCCAGTGGGAAGCAAGCACACACACAGGCCAATTTGCTCTCATATATATGAACTTGTGTATACAGAGAGCCTCACTGGGCCTCCCCTGATGCAGAAGAGAGAAGAGGAGACAATGCTTAGGCCTGGATACAAACTGAGAAGCTGAAGAACAGGAGAGGCCAGGGAAGGAGGCCAACCCCAGCCCCAGGCCAAATGCAGTGGCCTAGCTCATAGTCTATAGATGGTTTGTTGCCTCATTCCTCACTCTGGCCTTTTCTTCCATCCCAGTTTGGCTCTAGGGAAAAGTGGGTATAGATGAGCTTCAGAAATGCCCTAATTTCACATACCTCATGAGTGCATTCTTGATGTTACTTTGCTTCCCAGAACCCAGGCTTCACTTCTTTATTCCTTCACTTCCTACTTGTTTTCTTTGTGTGTTTCTCTATTTCCATCCTCTCTTGCTGACCCCTATCTCCTCATCTCTTCATATATCCTTTCTTCTTAACTTCAGAGTCCCCATCATTCTTATTTTTTCTCCTTTAGACGTCACTGCCATTTACTATAGTGATCCTAATAACTTTTGCCCAATATTTACTGAATGCGTACTGGGCCAAGAACTATGCTAGGTACTTAGAGATAAATGGAAAGGGTAAAACATGAGTCCCTGTCTTCCAGGAGCTCACACTCGGGTGTGGGAGAAAGCCTTTTAAGCACACGATTGCCATTGAACGTGATCAGACTTCTCAAAGATCTGGGCCAAGTACTATGGGAAATCAGTCAAAGGAGGGACAAAGTACCTGCAGGCATTGGAAAAGGTGGCTCAGAGAAGGCAATGAAGTTTATGCTCTGGGTCACAAAAGATGAGCATGCGGCAAAGGCCAGTACACAGGCCAAGGACACTTTATTTATTTATTTTAGA
ATTCAGAAAGGGTTTAATAAACAGCAGCTAAACATTGCACCAAAGCATTTGGAAACACAATTTCTACAGAGAGGCAAAGATCAGGCTTCCATTCTAAGTTCCTTAAGACAACCATTAACAGCCCCGCCCTCCCACCCCCCATATCCCCACATATCCACAAGACTACACTCTTCTAGTCATGAATTTACCTACAGACACAGTCTTAGGAATAATGGGACGGGCATGCATTATCCCAGCAATGGCAAGGAAGCAGGGGACGGGGAAAGGATGGATGAAAAGGCAACCAGCAGCTAATGATACACCCCTTAGGAGCTTTGTTCAGCCGGTGGGCAGGGAGAATCTGCTTGTGGTGCCCTCTGTGGCTTTACCCTGGGCTTCTAGGATACTCTGGACTAGTGCAGGTATTCAGAGCCAAAGTGGCTGGGGCTGCCATCATAAACAGTCTCATTCTCTTGGGCTGAGACTATTAAAAGTGATCTTCTTGGGTGACACATTGTGACTTTCTAAAAACCTTTTTGGTGCCCAACCAAGTTCCACTAGTGACCCAGAAGGCCCGCTGAGATTGTGCTGATTCTGAGGTCACGGTGGACCTGGCTTCTCAGTCCTTTATTTTGGCCTTTGGAAAGGGGCGCACGATAGCTCTTTATTAAAGACACTTGTAAGGAGCCTAGGCAAATCATTCAAACTTCTGGGATTCAGTTTATCTACCTTATAAAAATTGCGTATTTATGCCTGTGTCTTTTACTCACATTAAGATTAAGAACAAATGGCCTCTAAATAATATATTATAAAATTGGCAATAAAGTTAATGATCTAGTTGACTCAATATTGACTAGAGATATTTATTTGTATGAATTTCCAATTCACCCCTCATAGAATCGGCATCAACAGAGGACCGGAGGTTCCCGATATGGTGGGAGAAAAGTGCCTGGGCCAGGGTGTGGAATGTGGAGTGTATGGAAGGAAGAATTTGACTTTCATCTGCCAGTAGCCTTCTCTTTTGAGCCAGACTTCAATCCTCAACTACCATCCACTCCAAACCTCTTACCCAATCCAGTATAGGCTAGTTGCCTTGGCAGGGAGGTGACTTTTGTATCTCTCCCATATTTTAAAAAAATGTTTTTTTTAAATCTAGATCACTTTGTTTCTATTTGCAACTTTTCGATATAAATAAAAAATGCTTGATCATTTTTTCCTGAAAAGTTTACAGGTGGTAATGAGTCCAAATTAAGTAGTGCTCAGTTGGCTACAAGGGTGCCAAAGGCAGTGGGGGAAGAAGATTTTCTGGAGGAGAGATGTACCAAGGAGGGGACTATTTTCCCGAGGGGCTGGACATGGCAGGGCACCAGCCATCTTGGTGCCAGGCTGGCAGAGCTAGTTCTATTTATTTTGGCCATACATGGTAGACGGTGGTTAGTACCAATTGTCCCCACTAATTTCCAAACCAATAAATGGGTTGGGGGTGTAGAACTGGCTCCCACCTTTGCTATCAGTACTTATGCCTAGTAGGCCTTGCTGAAGGCAGGGGAGGTGGCACGCAGGATCACATGGCCTAGCCTAACCTGGCTGCCTAGTAAGTTAGAGTCATCTGATCTAGATGGGAGTCAACAATTCTCCTTGTTCTGGGCCTCTCAAACAGCCAAGGCTTCCACTATGGAGAGTAGAATCTCTTGTTCTTTTTGCAGCGGGCAGAGTGCAATAAAATACATGCAGTGCCCTCAGCTAGGGGAGATTGGCAGACTAAGATGAGCAACTGGACAAATGGCAGTGTTTGGCTTTGATGGGGTTATACTGGGCAATATTGGAGGGACAAGTAATTTTTCTGTAGTTATTTTTTGCGTAGAGATTCATAAATATGAATTGAGGGTCACAGCTTGGTAGAGGGGTAAAAAGGAGAATCCTGAAATACGCGAAGGGGAGCCCCGGGGTTTGGGTGCCTGGATGCTTCACGGGGTATACAGTGCTCTGGTTGCTGCACTGCCACCACTATCTACTGTTTGCGGATCATGCCCTTGATAGCTGACTCCCGGTTGACATATGTGGCCCAACAGACCAGATTGAATATGGCAAAGAGCACAGGAAAGATGATGCGGGAAATTTTGTCAACCTTGCTGACACTGTTGTAGGTCTTGGTCTCAGTCGGGCTGTCCTGCACGTAGGTGGCCTTGGGTGAAGCAATGATTGTTGGGGTTGAGGAGGCACTGGGAGCAGCGCCCTTGGAGATGGTGGAAAATTCAGTGTCCTTGGCCAGGTTGATGGGATAGGTGGTCCCCACGATGTTGAAGGTAGTGCTGGTTTTCTTTGCTGGGGCTGCTGGTGTTTTCTTCTAGAGGCCAGGAAAAAGAGGGGGGGAAAGGGAGAAAAAAGCAAAGCTAATTAATTCATTACACAGAGAACCTTCAGAGGCTGCAGGGAGGAGGAGCCATGAGGGAAGTTAAGGCACAGGGGCCATGTAGCCAATAGCACTAGTAACCAGGTTTGTGTCAAGGAATAACTGAAGATGAGTATGAAAAGAGAAAACGTGCATCATCCTGGCTCACGAGCTATGTCGCTTTGGCTAAGTCACTTTTCCTCTTCATGCCTCAGTTTCTTCATCTGTAAAATGAGGATCAAAATAATTTTCAGGATTGTTGAGAGGATCAGATAAGAGAATGGAGCTAGAAATCGCCAATAAACTGTGGAATGTTGGTCACATGTGGAATCTTATACATCATGTGATTCGATCCTCAGAGCAACCCCTATGAGGTAGGTGGATGAGATTACTCCCATTTGACAGATGAGAAAACTCAGCCTCAGACTAAGTGGCAGAGCCTAACTTGCAATCTGGGTAAGAGATTTTTATCTAGGGCTACACTGTGCTGCTTTCTATAGGCCCCGGACACTTTTTGGTTACCCAAGAAATAACTCCAGAAGGCCGTGACCATCAAGTGGCACATCTCCTGTGAGGAAGAGAGCTTGGTGAGTCTGAAAAGTCATTTTGTCATAAAGACAATACATACCATGGCATGTTGACATGCATCATTACAACAGCTTCCCACCCTTCATGCAGTGTAACTGTTCAGCAAGCTCAGGAGCGGGCCAAGGCTTTCCACAGAGCTATGTAAAAGACTCTCTGACATAGCAAAGGCAGAGATAGATGCGGAGTTGCTATGTCACTGCCCTTTGGGCTTATTTTTAAGAGTGAAAGAAACTCAAACACCCAGTGGGAAGCAAGCACACACACAGGCCAATTTGCTCTCATATATATGAACTTGTGTATACAGAGAGCCTCACTGGGCCTCCCCTGATGCAGAAGAGAGAAGAGGAGACAATGCTTAGGCCTGGATACAAACTGAGAAGCTGAAGAACAGGAGAGGCCAGGGAAGGAGGCCAACCCCAGCCCCAGGCCAAATGCAGTGGCCTAGCTCATAGTCTATAGATGGTTTGTTGCCTCATTCCTCACTCTGGCCTTTTCTTCCATCCCAGTTTGGCTCTAGGGAAAAGTGGGTATAGATGAGCTTCAGAAATGCCCTAATTTCACATACCTCATGAGTGCATTCTTGATGTTACTTTGCTTCCCAGAACCCAGGCTTCACTTCTTTATTCCTTCACTTCCTACTTGTTTTCTTTGTGTGTTTCTCTATTTCCATCCTCTCTTGCTGACCCCTATCTCCTCATCTCTTCATATATCCTTTCTTCTTAACTTCAGAGTCCCCATCATTCTTATTTTTTCTCCTTTAGACGTCACTGCCATTTACTATAGTGATCCTAATAACTTTTGCCCAATATTTACTGAATGCGTACTGGGCCAAGAACTATGCTAGGTACTTAGAGATAAATGGAAAGGGTAAAACATGAGTCCCTGTCTTCCAGGAGCTCACACTCGGGTGTGGGAGAAAGCCTTTTAAGCACACGATTGCCATTGAACGTGATCAGACTTCTCAAAGATCTGGGCCAAGTACTATGGGAAATCAGTCAAAGGAGGGACAAAGTACCTGCAGGCATTGGAAAAGGTGGCTCAGAGAAGGCAATGAAGTTTATGCTCTGGGTCACAAAAGATGAGCATGCGGCAAAGGCCAGTACACAGGCCAAGGACACTTTATTTATTTATTTTAGA
Task1_train_31401
A variant was discovered on Chromosome X, affecting GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
GCTAAAGATGACACCAACCGCGGTTTACCAAAATGAAGTGGGAGTGGGGTCTGATTGGGCAGCCAAGGATTGGTCTCAAGAGTTGATGCCAGGTGGGCAGTGCCCAGGACAGACGGGGAGGTGAGGGGAGTGAACAGATACAGGGACTTCTCTTGCTTGCTCACTCTGAGGAGGAAATCCCTGCAGCAGCAAGGGTGGGCCTTCAGCCTCTAGGGCCCAGCTGTGCAGTGCACCACTTTGGGCCACGTGATGCTGCAGCCTCAGCCTCCTCCTGGGGCCCCCTCTTTTCCCTTAAGTTGGGGTGGGGAAGGGAGGGGAAACCAGGCAGTGGCATTGGTGGTGGCACCTCTTGAAGCAGGAGGCCGGCTTCTCTGCTCACACATGTAAGGGGTCCAGTGGAGACGTGAGGGGACAGGAGGGTGTGTGAAACCTGCAAATGGCTCCTCTCCCTCCTTGCTTGCATAGTCCCGGGATCAGGGCTCTAAAGAGGCTGGCAGTACCTGTGCAGCCAGTGCAGGAAAAGTATGTCAATGCCCCTGCTTCACCTTCAGCACAGTGAGCCAGGGACGGGTCCCTGTCTGGCTCTGCCCACACTCCCAGTGCTCTGAGCCCTGGCCACGCAGTGGCCCAGGTAGCCAATGCACGATGGCCAGGAGCGCTCCTGGGACACAGGGACAGGGCCCAGGTGGCCCAGACACTCCCACCACCGGCTACCTCTACTGCTTCTGCCAAAGCCAGGCACTTGACCCCAGCAGCAATGCTCACCCACTGGAAGGAGGGAATTCTTCAGATTAGGGCCAGCCACACCTTGCCTGCCTGTGCCACTTGGACTGGTCCAGCCGGAGGCCTGCCATACATGACGCCAGGACCCCACAGAACAGCCCACCCACCCCTGCAGCCCTACACTCCTTATCTCTTCTGCATCTTACTCTGAACAGCTTTCAGCTTCCCTAACAGGCCATGCTCTCTCATACTTCTGGACTTTCGACATCTCAGTATTGCCTTTGTCAAGAATAGCCTTTCCCCACACTAATTCTAGATCTCTAAATCCTGTTTGTCCTTCAATTCCATTTCAAATGTTGATTTTTTTAGGCACCCTCCCCTGATTCTGAGGTGGAGGGAAAACAGGGGGCAGAGGAGATGACAGACTGTGATATCACAAGAGGGAACAGTGTATGTCTAGATAATGAGATAAAAGGACATGTATAATTGTGGATTCACAGAGACAAGTGTTGCTTGAAAATTAACGTTGAAAGCTTCTATCATTTCATAGCAAAAAAAATATTATGTGATATGTGGGCCCCAGCATATACTCCATTTTGACGAACATTCTAAGGTTAGTTGAGATCCAGAATATATCGTCCCTCAGGCCCCTTGAACTGCTCAGGGGCCATTTCCAAATGGACAGACTTAAGGCCACAGAACAAAACTCTAGTTTCATTTGTCAATATCCAAGAGTTAGCCATTGATAAAACCTAGCAGGTTTTGCCAACCAAGCTTTTTTCTGAGTTACGTGATCCCCTTAAGAAAATAATTCCATGGCTACTCCCTGGGCATCCTGGCTGTGTGCTTGACCTTTTCTGGGATTAGTTAATGTGCCACCTCAGCACAGGCTGAGTTAAGCAATTATTTTAATGAAATCTTTAGGAACAAAGCTCAGCTCTTCCCCCACCATGGCCTTCATCTGCTTTCTCTTCTCATACTCTAGCCCTAATGCCCTTCACCTTCTGCACCACTCTTCAAGAGGCAGCAGGCAATCGTGGTTAAGAGGATGGTCTTGGGAGCCAATCTGACAAGTGTTCATTTTCGTTTTGCCATTGCATAACTGTGACAAGGAGCAAATTACTGAACTTTTATATACTCAGTTTTCTCATGATAATACTATCTTTGTCACAACATTGTTTTGAAGATTAAGTAAGTTATAAGCACTTAGAACAGTGACTGGCATGTGGTATAGGTTACAGAAATGTTTGTTAAATAAAATAAGTTAAATACCTGTACTAGACCGGATTATCTCTGTCCCAACAACATGGCCCAAAAGGTCATACTGGTTCAAGCGAGAACCATCCTGTGCCACTTCCACGGATTTGTTCTTTCCGAGAGTCCAAGAATAAACCACTTCAGCTGTTGTATAGGCATCTAAGGCAGAGAAGGGTCAATAAAGAGAAGTTGAAGGAAATGGAGAATGATTACCCTTGATACTAAACTCAAATGAGATCGAAATAAAACTTCCATCTTCAAAGAGTTCTGGGTATGTGGTCTGTCTTCAACTGAAGTCCATCCATCCGTCCATCCATCCATCCATCCATACAATAAACTCTCATTGAACAGCTACTGTAGTATATGCTGTGTACATAGAAATGAACCCAAAGTGTTCTCATACTTCAATGACTGTCTTCTAGACTGCCAATAAACTTTTTCTTCTGTTGGACAGTAGACAGTAGGGGCAGGGGGAGGAATGGCTAAAATATTATCTCATGTAGATGTCACAGACTCAAATGCCTACAGGAGCCATAGAGGTTGACAAAATTTGGATATTCGACCCCTCCAATTCTTATGTTAAAATGCAAACCCCAGTGTTGGAAGTGGGGTGCAGTGGGAGGTGTTTGAGTCATGGAGGCAGATTCCTCACAAATGGCTTGGTGACACCCCCCTCCAGTAATGAGTGAATTCTTGCTGTATTAGTTCACAGGCTATCTGATTGTTTTCAACGAGCCTTGCACCGCCTTCTCTCTTTTGCTCCCTCTTTTCATGTGACACGCTGGCTTGCTTTGCCTTTCACCATGAGTAAAAGCTTCCTGAGGTCCTTACAAAATGCAGATGCTGGCTCCATGCTTCTTGTACAGCCCCCCATAACCATGAACCAAATAAAACTCTTTTCTTTATAATTTACCTAGCTTCAGGTATTCCTTCACAGCAAAGCAAAACAGACTAACACAGAGGTACCTTGAATAAGTAAATGAGGCTAATTATAAGAAAAATAAGCTGGCAGAAAAGTAGTACAAATTCAATTAATTATGGGGTGAGCATATCAGAGAAAGCAAAAATTCAAACTAGTGATATTTTAAGTTAAAAAAGAAAAATTCCAAATTAAAATTACAATAATTGATTTTCTTTCATAACTTATTATCAGTTTGATATGCAAACAAGACACCTACCTGACACCTTTTCTTTTGCATCAGCATTAATGTCAAGGCTTGTATTTAGAATTCCAATGTCAAGTACAGAATTTGTATAGATTAACAGGGGCGTGAGTAAGGGAAATGGTCAGAAATGAGGTGGGGTTATTTAACTTTAGTCAGTATATTAAAGAAATGAGTTGATTCCTTCCCTGACATGGTTAACTCTTTCCACCGTGGATTTTATATCTAGGGTGAGTACTTGCCCTAACTCAGGCACCCAGGCTCATAAAGGGAAGCTGACCGCATACTGTATACCCTTTTCCTTCAAGTTTTGAGCTGCCTGTTGTTCAAGCCAGAGGGGAAGAGGGGTTCCTCCAGCTCATGGTGGCAACTACTATACCCCTAATATACTCTATTGAAACCTTCTACCACAAAGCAAATAATTTCTGGTGAATCTGCCAATAAACAAATATAAATGCTGGGTCCCTGCAAAACTTTGCAACATTGGATATACATTTCACAAGTCTGACATTAACAGCTATTCATGGGTACCAATTGTGATCTGCTTACATTACACTTTTTAAAACTTTTTCAATACACCTAAATAAGTCATTTCCTGCTTTGTTTGTAATGAGCAACATGCTAAAAATTTCTCCAATCACATCAAAATTCTCACTGACATCATGAACAAATATTCATAACTCTATGGTATTTTTTATATCTGTGCTCTCATAAGCTGCAAAGGAAAATATCACAGGAAGTTTAACTTTTCCACATAATTTGCCTTGTATATAGTCTCAGTCATTTCTTCAACACAACAACAACAAGATTTCTAGTTGGACACATAATTTCTGATACAATTAATAGACTTTTTTTTACAAGTTTGGTATCTATGAAATATTTTGATGCCTATAAAGGTTTGTTGCTGAAAGCATAACCACATTTTCTAGCAATAACATTTAGTGTATGCATTG
GCTAAAGATGACACCAACCGCGGTTTACCAAAATGAAGTGGGAGTGGGGTCTGATTGGGCAGCCAAGGATTGGTCTCAAGAGTTGATGCCAGGTGGGCAGTGCCCAGGACAGACGGGGAGGTGAGGGGAGTGAACAGATACAGGGACTTCTCTTGCTTGCTCACTCTGAGGAGGAAATCCCTGCAGCAGCAAGGGTGGGCCTTCAGCCTCTAGGGCCCAGCTGTGCAGTGCACCACTTTGGGCCACGTGATGCTGCAGCCTCAGCCTCCTCCTGGGGCCCCCTCTTTTCCCTTAAGTTGGGGTGGGGAAGGGAGGGGAAACCAGGCAGTGGCATTGGTGGTGGCACCTCTTGAAGCAGGAGGCCGGCTTCTCTGCTCACACATGTAAGGGGTCCAGTGGAGACGTGAGGGGACAGGAGGGTGTGTGAAACCTGCAAATGGCTCCTCTCCCTCCTTGCTTGCATAGTCCCGGGATCAGGGCTCTAAAGAGGCTGGCAGTACCTGTGCAGCCAGTGCAGGAAAAGTATGTCAATGCCCCTGCTTCACCTTCAGCACAGTGAGCCAGGGACGGGTCCCTGTCTGGCTCTGCCCACACTCCCAGTGCTCTGAGCCCTGGCCACGCAGTGGCCCAGGTAGCCAATGCACGATGGCCAGGAGCGCTCCTGGGACACAGGGACAGGGCCCAGGTGGCCCAGACACTCCCACCACCGGCTACCTCTACTGCTTCTGCCAAAGCCAGGCACTTGACCCCAGCAGCAATGCTCACCCACTGGAAGGAGGGAATTCTTCAGATTAGGGCCAGCCACACCTTGCCTGCCTGTGCCACTTGGACTGGTCCAGCCGGAGGCCTGCCATACATGACGCCAGGACCCCACAGAACAGCCCACCCACCCCTGCAGCCCTACACTCCTTATCTCTTCTGCATCTTACTCTGAACAGCTTTCAGCTTCCCTAACAGGCCATGCTCTCTCATACTTCTGGACTTTCGACATCTCAGTATTGCCTTTGTCAAGAATAGCCTTTCCCCACACTAATTCTAGATCTCTAAATCCTGTTTGTCCTTCAATTCCATTTCAAATGTTGATTTTTTTAGGCACCCTCCCCTGATTCTGAGGTGGAGGGAAAACAGGGGGCAGAGGAGATGACAGACTGTGATATCACAAGAGGGAACAGTGTATGTCTAGATAATGAGATAAAAGGACATGTATAATTGTGGATTCACAGAGACAAGTGTTGCTTGAAAATTAACGTTGAAAGCTTCTATCATTTCATAGCAAAAAAAATATTATGTGATATGTGGGCCCCAGCATATACTCCATTTTGACGAACATTCTAAGGTTAGTTGAGATCCAGAATATATCGTCCCTCAGGCCCCTTGAACTGCTCAGGGGCCATTTCCAAATGGACAGACTTAAGGCCACAGAACAAAACTCTAGTTTCATTTGTCAATATCCAAGAGTTAGCCATTGATAAAACCTAGCAGGTTTTGCCAACCAAGCTTTTTTCTGAGTTACGTGATCCCCTTAAGAAAATAATTCCATGGCTACTCCCTGGGCATCCTGGCTGTGTGCTTGACCTTTTCTGGGATTAGTTAATGTGCCACCTCAGCACAGGCTGAGTTAAGCAATTATTTTAATGAAATCTTTAGGAACAAAGCTCAGCTCTTCCCCCACCATGGCCTTCATCTGCTTTCTCTTCTCATACTCTAGCCCTAATGCCCTTCACCTTCTGCACCACTCTTCAAGAGGCAGCAGGCAATCGTGGTTAAGAGGATGGTCTTGGGAGCCAATCTGACAAGTGTTCATTTTCGTTTTGCCATTGCATAACTGTGACAAGGAGCAAATTACTGAACTTTTATATACTCAGTTTTCTCATGATAATACTATCTTTGTCACAACATTGTTTTGAAGATTAAGTAAGTTATAAGCACTTAGAACAGTGACTGGCATGTGGTATAGGTTACAGAAATGTTTGTTAAATAAAATAAGTTAAATACCTGTACTAGACCGGATTATCTCTGTCCCAACAACATGGCCCAAAAGGTCATACAGGTTCAAGCGAGAACCATCCTGTGCCACTTCCACGGATTTGTTCTTTCCGAGAGTCCAAGAATAAACCACTTCAGCTGTTGTATAGGCATCTAAGGCAGAGAAGGGTCAATAAAGAGAAGTTGAAGGAAATGGAGAATGATTACCCTTGATACTAAACTCAAATGAGATCGAAATAAAACTTCCATCTTCAAAGAGTTCTGGGTATGTGGTCTGTCTTCAACTGAAGTCCATCCATCCGTCCATCCATCCATCCATCCATACAATAAACTCTCATTGAACAGCTACTGTAGTATATGCTGTGTACATAGAAATGAACCCAAAGTGTTCTCATACTTCAATGACTGTCTTCTAGACTGCCAATAAACTTTTTCTTCTGTTGGACAGTAGACAGTAGGGGCAGGGGGAGGAATGGCTAAAATATTATCTCATGTAGATGTCACAGACTCAAATGCCTACAGGAGCCATAGAGGTTGACAAAATTTGGATATTCGACCCCTCCAATTCTTATGTTAAAATGCAAACCCCAGTGTTGGAAGTGGGGTGCAGTGGGAGGTGTTTGAGTCATGGAGGCAGATTCCTCACAAATGGCTTGGTGACACCCCCCTCCAGTAATGAGTGAATTCTTGCTGTATTAGTTCACAGGCTATCTGATTGTTTTCAACGAGCCTTGCACCGCCTTCTCTCTTTTGCTCCCTCTTTTCATGTGACACGCTGGCTTGCTTTGCCTTTCACCATGAGTAAAAGCTTCCTGAGGTCCTTACAAAATGCAGATGCTGGCTCCATGCTTCTTGTACAGCCCCCCATAACCATGAACCAAATAAAACTCTTTTCTTTATAATTTACCTAGCTTCAGGTATTCCTTCACAGCAAAGCAAAACAGACTAACACAGAGGTACCTTGAATAAGTAAATGAGGCTAATTATAAGAAAAATAAGCTGGCAGAAAAGTAGTACAAATTCAATTAATTATGGGGTGAGCATATCAGAGAAAGCAAAAATTCAAACTAGTGATATTTTAAGTTAAAAAAGAAAAATTCCAAATTAAAATTACAATAATTGATTTTCTTTCATAACTTATTATCAGTTTGATATGCAAACAAGACACCTACCTGACACCTTTTCTTTTGCATCAGCATTAATGTCAAGGCTTGTATTTAGAATTCCAATGTCAAGTACAGAATTTGTATAGATTAACAGGGGCGTGAGTAAGGGAAATGGTCAGAAATGAGGTGGGGTTATTTAACTTTAGTCAGTATATTAAAGAAATGAGTTGATTCCTTCCCTGACATGGTTAACTCTTTCCACCGTGGATTTTATATCTAGGGTGAGTACTTGCCCTAACTCAGGCACCCAGGCTCATAAAGGGAAGCTGACCGCATACTGTATACCCTTTTCCTTCAAGTTTTGAGCTGCCTGTTGTTCAAGCCAGAGGGGAAGAGGGGTTCCTCCAGCTCATGGTGGCAACTACTATACCCCTAATATACTCTATTGAAACCTTCTACCACAAAGCAAATAATTTCTGGTGAATCTGCCAATAAACAAATATAAATGCTGGGTCCCTGCAAAACTTTGCAACATTGGATATACATTTCACAAGTCTGACATTAACAGCTATTCATGGGTACCAATTGTGATCTGCTTACATTACACTTTTTAAAACTTTTTCAATACACCTAAATAAGTCATTTCCTGCTTTGTTTGTAATGAGCAACATGCTAAAAATTTCTCCAATCACATCAAAATTCTCACTGACATCATGAACAAATATTCATAACTCTATGGTATTTTTTATATCTGTGCTCTCATAAGCTGCAAAGGAAAATATCACAGGAAGTTTAACTTTTCCACATAATTTGCCTTGTATATAGTCTCAGTCATTTCTTCAACACAACAACAACAAGATTTCTAGTTGGACACATAATTTCTGATACAATTAATAGACTTTTTTTTACAAGTTTGGTATCTATGAAATATTTTGATGCCTATAAAGGTTTGTTGCTGAAAGCATAACCACATTTTCTAGCAATAACATTTAGTGTATGCATTG
Task1_train_31402
The gene GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
TTTTCTCTGTCTAGAACGTCCTTCCTCTCTTCCTTCTGCCTCTACCTATCCACCTACAAGTTTCTTGACTGCATTCTACTTACATAATAATATAAAATGCTAATGCTAATACCAATAATCAGAAGCCTAGCTGTTGCCTTATCCAGGGACTCTTCTCTCAACCTGTCCCAAAACAATGAGTTAGATGACCCTGCTCTATATTCCAATAACTACCCATCTCTTTAGCATTTTAGTTAACATAATTTGCTATTATCCTATTAGTCTTTCTCCCCTATTATATTGTGATTATCTTAAGGACAGAGATTATGTCTCATTAATGTTTGCATTTCCAGAATTTACTTTAGGGTCATGTATATATTAGGAAGTCAAAACATGTTTGGCAAATGAATAAATGAGGGAAAGCTTCTCTTTCTTTCGTCTACAATTTCCCTCCCTCTTGTTCATCTCCTCCCATGTCCCTTCCCCTACTTCTCTATGTCTTTTCCTCTTTATTCCCATCTACTACATCCACTTCATTATATTCGCCTATCTCTTTAGAATATCCTAATATCTAATCTAGCTTCTTTATTTTACACCATCTTATCCTTTGTCTTCTCAACTTCTCTACTCTTTTTGTCCTCTCTTCTCATACTCTCTTTCTTTTCACCATTCTCATTTCTCCAATATACATGCCTCTATGTACTCTGTGTAATTAGTCTTCTCCTCCCCTCTTGACCCTCATCTTCCCACTTCTATCCACTTTCCTTCTTCATTATTTTATCCTCCACTCTATGCTCATTTCTCCTCTATGTTCATTTTTCCTCCCATCTCTCATCCAACTTCTCTCTGAAGTATTATCCTTTTTTCCTTGACCATCTCCTCATCTTCCAAATTCTTGTAGGAAAAACACCAATAAATAGCAAATTTGAAGTAATGAGAGATTAGTATACAGACAAACACACTTCATTTATTCACCACCTATTTACCAGGCATGCATTATTTGAGGTTTGTTCTGCAAAATAACAAATACACCAATTCTAAATAGCCATAGAAGCTCCACTACACAAAATTAGCACTCATTAATGTGGAAGGAAGCTTCAGGAAGTGACAACTGATATCGGAGGAACAAGCAAATTCATAAAAAAGCAAACCCAAAAACCAAGAATGTTTTTCAGTATTGGGGAAAGAATCTTATTGCACTGAAAATTTTTTCAAATTTATTCTTTTTGACAGCAAAATTCAATGCCTAATAACTCTATGACAGTAACAAGTTATGAAATACATAAAATTGTGATGTTTTTATCCATTGGGAGTTGGAAAAGTATGAAATATAATTTATATTTTATGAAGATTTCTATATCTATATATACACACACACATATGCACACACATATAAACACCATGTATAGATAGATAGAGATATAATCTTAAATTGTTTGGAAAATTCACTTATTATCATCCTCAGTATCCTAAGGTAATGTAGCATAAAATAAACATATTCAAATAAATAAAAAATTAAAATAAGTATTTTTAAATTTATGTTTATAAAACACTGTATGTTTCACAAAATACCCATAGTTATCTCATTTGATTCTCACAACTCTGCATCATAGGGATAGTTTGTTGTTGCAGTTAAACCTAGTCAATTCTAATTATCAGCGTTCATGCCTGTGTGTATGTTTTTGTGAATCTGTGTATTTAAGTGTCCTTGAATACATTATGTCCTTCTGTGTTAGTCCACATGTGTCTTTAGGTATGCATGCATATACAAATCATGAATGTATACCTCTGTGTTTCTCAAAATGTTCATCTATGCAACTCTTTATTTATGTGTTTATTAGAATATATATGTCTGTGAGTATGTATGCATGCAATTGTATTAGGAAGTATATACATACCTGTACATTTCTAATCTATACACTTGAGGGAATTTTCAATGGATACTCTAAAACATTCTGCTTTCAAGCCCAGTCCTACTCCCAATATACTTTGGGTGGGAACCACCACTCTCTGACCTCATTGTATAGAGGAGGGTTCCGTTGTCCACCAATCTGAGCAGCTTGTTGGGCGTGGTCATGTTATGAGCCACTGATTTCTTGCCATTGTGGAAGAAGGTGTCCGGTGTCCAGATCTTACTAGCCAGGAGATTGTTCAGTGGAAGGATCTTCATGGGGCCATCAAATTTCAGTCTTTCATCATGCCATGTCTGCCGAAAAAATACATCAATAGTGTACTCCTAGGGGTGAAAAGAGAGAAAACAATGTTTCAGTTGAGTTCTGGTAAGGGCTCATAGTGCCCTTAGCAAATATTAATTACCTTGCAGTATTTCCTCTGATGCAGAGAAGCAGCAGTCTATTAACAGTAGCTCCTGGTGTGTAAGGAAAATGATTATGATTGAGAAATAATGCCATGGAGATTAATAAGCATGGGGATAACATATTTGACAAGGCATTTTTAAGGAAGACAACTGCCAACACATCCCCACACAGCACACAAGCTGATCATAAGACTTTGCCTTATGAAAAGGCAAGTGCTCCCTCCTGTATGCAGTGACACCCAAATAAGAACAAGTTTCTTACCTTGTCTCTACTGCTTAATGACCCCATATGAACATCAAAGGCCAATATAAAAATCGCCACAAAACCAAAACCTTACATTTTATCGTACATTTAATCTGAGCCTCAAAATAACAATATGTCTGATTAGCAAATAGCTTATTATCCTCAATAAATAATGAAATATTATAGATAAATAAGATAAAAAACATACCTTATAGACAAATAAGATAAAAATGGGTAAATGAACAGCAAAGTCATGAAATGGATAAAAATTGCTAATAAACGTGAAGAAAATATTCAAATTTGCTGTTTATCTAAATACAAAATAAATGAACAATAAATGTTCCAGGTATTGGTAACAGCATAATAAATTGTTTGATTACATTTTCTTGTAGCTATTAATTATAAAACCTGAACAACAACTGTATATACCTGTATTCCTTGAAAGCAGTGGAGCGTGACTGAAAGCAGACAGAAACCTAAGGTGAGTTTACCTTTGAAAGATGGCAGCAGCAATAGATTAGAATTGTGAGTTTGTGATTTTTCTTTCTTGAAGGTGCTTCCCAAACCTAGAATTCCTGTGGCATATACAACACCCTTACTGGCTCAAGGTGGCAGAGAATCTGGACCATTAGGGATGGAAGACTCAAAAGTAAGAGAATCCCAGAAGGGATGGGCCTCCAAATCTGAATATATATTCTGCCGAAAAATTCCGGCTGATCACTATACTACACACAAATAGGAGAGACCCTGGGGCCCAGTTAAAAAAAATAGGCAGAAACAATAAGATAGTGGTCCACTAAATGAAAGAAATGAGCTGGGTGATGTTTGTGAATTTGCTACGATTTAGACTGAAGGAATTCCTTAATCCATCACAATTCAAGTGGAGGAAATCTGAAAAAGTATTAGCTTATCAGAGAATAAGCTCTGGATTGGAAGATGGAAATTCATGAGGATGTCCTGGGAACAAGAGAACCACTGAGAGGGTGAGTCCCAAAATCTGAGTATAACATCTGCCCAAATATTTGACCACTGAACTACACAAGGCACAGGGGACACTTCCAGATAGCCAGGTTAAAAGAAATGAAAGCCAGAATTTGCTGAATATTCTTTGGTTTAAAATCCCCTAATGGCTTCCAATCGTATGTGGGATGAACTTTTCCTTGCCATAAGCTGGCCCTTGCCTTCCTCTCTGAGTTATTCTCCAAACACTCTTTCCTTTAAAGATTAGCCATTCTGGCATTTCTCTTCCTTTAGTAGACCAAAAACATTCCTGCCTACAGATTTAAAGATCATATAATTGGTTGCCTAAACTGGAACACTTTTAAGAGGAAGAGGAGGCAGGACTGTGGCAGATGAGAAGCTGGAACTAGACTTTCACATAAAGCCAAGAATCTGTTAAGAGCTTAGCAAAAGGGTAAACTAGATCAACTTAACTAGACAAAATCAGATCACAACACAAAAGTTCAAAAAGGAAGAGGGAGGAGTTGAGGAGAAAGTGTTTCTACTGAAATGTAGCAACCTCAAAATTCTAATCATATGTGGGATTGACATCCGAA
TTTTCTCTGTCTAGAACGTCCTTCCTCTCTTCCTTCTGCCTCTACCTATCCACCTACAAGTTTCTTGACTGCATTCTACTTACATAATAATATAAAATGCTAATGCTAATACCAATAATCAGAAGCCTAGCTGTTGCCTTATCCAGGGACTCTTCTCTCAACCTGTCCCAAAACAATGAGTTAGATGACCCTGCTCTATATTCCAATAACTACCCATCTCTTTAGCATTTTAGTTAACATAATTTGCTATTATCCTATTAGTCTTTCTCCCCTATTATATTGTGATTATCTTAAGGACAGAGATTATGTCTCATTAATGTTTGCATTTCCAGAATTTACTTTAGGGTCATGTATATATTAGGAAGTCAAAACATGTTTGGCAAATGAATAAATGAGGGAAAGCTTCTCTTTCTTTCGTCTACAATTTCCCTCCCTCTTGTTCATCTCCTCCCATGTCCCTTCCCCTACTTCTCTATGTCTTTTCCTCTTTATTCCCATCTACTACATCCACTTCATTATATTCGCCTATCTCTTTAGAATATCCTAATATCTAATCTAGCTTCTTTATTTTACACCATCTTATCCTTTGTCTTCTCAACTTCTCTACTCTTTTTGTCCTCTCTTCTCATACTCTCTTTCTTTTCACCATTCTCATTTCTCCAATATACATGCCTCTATGTACTCTGTGTAATTAGTCTTCTCCTCCCCTCTTGACCCTCATCTTCCCACTTCTATCCACTTTCCTTCTTCATTATTTTATCCTCCACTCTATGCTCATTTCTCCTCTATGTTCATTTTTCCTCCCATCTCTCATCCAACTTCTCTCTGAAGTATTATCCTTTTTTCCTTGACCATCTCCTCATCTTCCAAATTCTTGTAGGAAAAACACCAATAAATAGCAAATTTGAAGTAATGAGAGATTAGTATACAGACAAACACACTTCATTTATTCACCACCTATTTACCAGGCATGCATTATTTGAGGTTTGTTCTGCAAAATAACAAATACACCAATTCTAAATAGCCATAGAAGCTCCACTACACAAAATTAGCACTCATTAATGTGGAAGGAAGCTTCAGGAAGTGACAACTGATATCGGAGGAACAAGCAAATTCATAAAAAAGCAAACCCAAAAACCAAGAATGTTTTTCAGTATTGGGGAAAGAATCTTATTGCACTGAAAATTTTTTCAAATTTATTCTTTTTGACAGCAAAATTCAATGCCTAATAACTCTATGACAGTAACAAGTTATGAAATACATAAAATTGTGATGTTTTTATCCATTGGGAGTTGGAAAAGTATGAAATATAATTTATATTTTATGAAGATTTCTATATCTATATATACACACACACATATGCACACACATATAAACACCATGTATAGATAGATAGAGATATAATCTTAAATTGTTTGGAAAATTCACTTATTATCATCCTCAGTATCCTAAGGTAATGTAGCATAAAATAAACATATTCAAATAAATAAAAAATTAAAATAAGTATTTTTAAATTTATGTTTATAAAACACTGTATGTTTCACAAAATACCCATAGTTATCTCATTTGATTCTCACAACTCTGCATCATAGGGATAGTTTGTTGTTGCAGTTAAACCTAGTCAATTCTAATTATCAGCGTTCATGCCTGTGTGTATGTTTTTGTGAATCTGTGTATTTAAGTGTCCTTGAATACATTATGTCCTTCTGTGTTAGTCCACATGTGTCTTTAGGTATGCATGCATATACAAATCATGAATGTATACCTCTGTGTTTCTCAAAATGTTCATCTATGCAACTCTTTATTTATGTGTTTATTAGAATATATATGTCTGTGAGTATGTATGCATGCAATTGTATTAGGAAGTATATACATACCTGTACATTTCTAATCTATACACTTGAGGGAATTTTCAATGGATACTCTAAAACATTCTGCTTTCAAGCCCAGTCCTACTCCCAATATACTTTGGGTGGGAACCACCACTCTCTGACCTCATTGTATAGAGGAGGGTTCCGTTGTCCACCAATCTGAGCAGCTTGTTGGGCATGGTCATGTTATGAGCCACTGATTTCTTGCCATTGTGGAAGAAGGTGTCCGGTGTCCAGATCTTACTAGCCAGGAGATTGTTCAGTGGAAGGATCTTCATGGGGCCATCAAATTTCAGTCTTTCATCATGCCATGTCTGCCGAAAAAATACATCAATAGTGTACTCCTAGGGGTGAAAAGAGAGAAAACAATGTTTCAGTTGAGTTCTGGTAAGGGCTCATAGTGCCCTTAGCAAATATTAATTACCTTGCAGTATTTCCTCTGATGCAGAGAAGCAGCAGTCTATTAACAGTAGCTCCTGGTGTGTAAGGAAAATGATTATGATTGAGAAATAATGCCATGGAGATTAATAAGCATGGGGATAACATATTTGACAAGGCATTTTTAAGGAAGACAACTGCCAACACATCCCCACACAGCACACAAGCTGATCATAAGACTTTGCCTTATGAAAAGGCAAGTGCTCCCTCCTGTATGCAGTGACACCCAAATAAGAACAAGTTTCTTACCTTGTCTCTACTGCTTAATGACCCCATATGAACATCAAAGGCCAATATAAAAATCGCCACAAAACCAAAACCTTACATTTTATCGTACATTTAATCTGAGCCTCAAAATAACAATATGTCTGATTAGCAAATAGCTTATTATCCTCAATAAATAATGAAATATTATAGATAAATAAGATAAAAAACATACCTTATAGACAAATAAGATAAAAATGGGTAAATGAACAGCAAAGTCATGAAATGGATAAAAATTGCTAATAAACGTGAAGAAAATATTCAAATTTGCTGTTTATCTAAATACAAAATAAATGAACAATAAATGTTCCAGGTATTGGTAACAGCATAATAAATTGTTTGATTACATTTTCTTGTAGCTATTAATTATAAAACCTGAACAACAACTGTATATACCTGTATTCCTTGAAAGCAGTGGAGCGTGACTGAAAGCAGACAGAAACCTAAGGTGAGTTTACCTTTGAAAGATGGCAGCAGCAATAGATTAGAATTGTGAGTTTGTGATTTTTCTTTCTTGAAGGTGCTTCCCAAACCTAGAATTCCTGTGGCATATACAACACCCTTACTGGCTCAAGGTGGCAGAGAATCTGGACCATTAGGGATGGAAGACTCAAAAGTAAGAGAATCCCAGAAGGGATGGGCCTCCAAATCTGAATATATATTCTGCCGAAAAATTCCGGCTGATCACTATACTACACACAAATAGGAGAGACCCTGGGGCCCAGTTAAAAAAAATAGGCAGAAACAATAAGATAGTGGTCCACTAAATGAAAGAAATGAGCTGGGTGATGTTTGTGAATTTGCTACGATTTAGACTGAAGGAATTCCTTAATCCATCACAATTCAAGTGGAGGAAATCTGAAAAAGTATTAGCTTATCAGAGAATAAGCTCTGGATTGGAAGATGGAAATTCATGAGGATGTCCTGGGAACAAGAGAACCACTGAGAGGGTGAGTCCCAAAATCTGAGTATAACATCTGCCCAAATATTTGACCACTGAACTACACAAGGCACAGGGGACACTTCCAGATAGCCAGGTTAAAAGAAATGAAAGCCAGAATTTGCTGAATATTCTTTGGTTTAAAATCCCCTAATGGCTTCCAATCGTATGTGGGATGAACTTTTCCTTGCCATAAGCTGGCCCTTGCCTTCCTCTCTGAGTTATTCTCCAAACACTCTTTCCTTTAAAGATTAGCCATTCTGGCATTTCTCTTCCTTTAGTAGACCAAAAACATTCCTGCCTACAGATTTAAAGATCATATAATTGGTTGCCTAAACTGGAACACTTTTAAGAGGAAGAGGAGGCAGGACTGTGGCAGATGAGAAGCTGGAACTAGACTTTCACATAAAGCCAAGAATCTGTTAAGAGCTTAGCAAAAGGGTAAACTAGATCAACTTAACTAGACAAAATCAGATCACAACACAAAAGTTCAAAAAGGAAGAGGGAGGAGTTGAGGAGAAAGTGTTTCTACTGAAATGTAGCAACCTCAAAATTCTAATCATATGTGGGATTGACATCCGAA
Task1_train_31403
The variant affects gene NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Child syndrome
CTGTGAGTATACCCCTCCCAGGTGTGTGCAGTGTATCACACCCACTGAGGTTTTCTCGCAAAGCCGGTACATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGTCTGCTGTTGCTTCAGCTCAGAAAGTCCTGGCAGAACTGGTCCACAGGGAGACACAAGGGCCACCCAGACCAGGGGTGGAGGCTTGAACTTTGGCAAGCCACAGTCCTGGCTCCAGACTATGCTGTCTTGCTCCTTGGAGCACTCATGTGCTCGAACTTGGCCCAAGGAGTACTAAAGCCTCCCTGCGCCTTGCAGGCAGTTCAGTCACCATGGAGACCCTGTGTATTCTCAACCCAATATGCCTGATACTGATTGCCACCAGAGCTGAGCCCATCTAGGCTCAGGAGCTTCAAATGATGGCCTTGGCCCAGACCATCAGTGTCTCGCTTATATCAACTTTTGGGTTCTCAACTGGAAATAAGCAAAGCCTGCAGATGACTCCAGCAGTAACTCACCGGAAGCCTCCTTTCAGCCGAGGTTGACATCCACTGTTGGCTTTATAACCTTCCTACTGATCATAAACCAAATGTGATGGGGAGCTAGGACTCCTTCACCTCTCTTCCCTTTAGTAGTAGAGATGAGCCTTGGTGGAAGCCATTTGAGGGTTTATTTAGTCATTTCCTCCATCGCTGTGGGGACCAGAGTCCTGGCGGGAAGAGGAGGGCCAGCTCTGGGAATCTGTTGAGAGGCAGCTTTTCCATTGTTGAGTTGCTTAAGATCACTGGGGCCAAAACATAGACCAGCACTTTGCTACCATAGAGTAGAAGAAACCCGAGGTGACATGACAGCAGGAACCGTACTTACCAAGCATACAGACACGCACTGAAGCAACTCACATGGGCCATCTCGTGTAATTCGCATGCAGCCCCGTCAGGGTAGGTACCTTTATGATCACCACTTTTACCCACGATAAAACAAATCCTTTGGAAAGTTTTGTTACTTTTGAGGCGAAACCCATTTCACTGTGCTTTAGACTCTTGAGTTCTAGTTTGTCCATGAAGTCACACAGAAGTCACCCTTTCCTTGCGGTGGCAACAGGAGCACTGGCTCTGGACCAGGCACTGCTCTGAGGACTTTACATGTCTCGGCCTCCTTTGCCCCCCAGCTGCTGGCCTGTTTCTCCCCAGGCATGGTCTTCAGACCCTTCACCTTCTCTGACCCTCTTCTGGGCCCACTTGGGTTTCTCAGAGCCCTCCCCTCGGAGGTGATACTCAGAATTGCCTGGAACAGACCCGGCCTGGTGGAAACGTGGGCGGCACATGCAGTTCAAGTCACTGGAGGCTCACGGCTAACTTGTTTGCCAGAACCTTTGGACGTTTTCCACAAACTGCTGCCGAGGCATGTCTTCTGGCAGTGTTGGTGGATTTTAGCCTTTGAACGCAAACCAGGGCCTTCTGATTTGATCTTACCAGTTTTTGCCCAGCTGTCTGTCCTGCATTTTCAGATTTTGGTGTGAGGGTGGGTGGGGTAGAGAGGTAGCCCAGAATTATACCAGCCACTGATGTAGGTTGTCAGCTCAAGGCAGACCACTGCTCAGTGGCCACATGCCAGCAGAGTGTGTCATCTGTCTGTCCCCCACGAGTGGTGCTTCTCACCCAGCGAGGCACTCTCTTGGCTTGGGCCTAGGAATTTGCAATGGACGTGCCCCTTCTCCCACTCTCCTCCAGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGGTGAGTCAGCCCACAGCGGCTCTTCCCTAGTCCTTCCTGGTCCATGCTCGCATTCAGAGAGCACTTGGCAGGAGCCACATGGCATTGTAGCTCTTTTCTTATGTGACTGTCTTGGTCCATGCAGGCTGCTGTAACAAAATACCTAAGACTGGGTAACAAACAACAGAGAGCTTGGAGGCTGGGAAGTCCAGATCAAGGCGTTCCCAGACTGGGTGTCCATTGAGGCCCTGTTCCTCATGAGTGGCACCTTTTCACCATGTCCTCACATGGTGGAAGGGGCAAACAGGCTCCCTTGGGCCTCTTTTATGAGGACACTAATCCCATTCCCGAGGGCAGAGCCCCCATGACCTAATCACCCCCTAAAGGTCCCTCTTCACAGTACCATTGCACTGGAGGTTAAGTTTCAACATATGAATGTTGCGGGGATGCAAAGATTCAGGCGATAGCAGTGACCTTGTCCGCTGTCCTCTGTATTCATTTCTTGTAGTTGCCATAACAACCTGCCACAAAGTAAGTGCTTAAAACAACAAATGGATTCTGTCACATTTTGGGAGGCCAGAAGTCCTCAGTTAAGATGTTGGCAGGGCTAGTGTCTTCTGGAGGTTCGCAGGGAGCGTCTGTTCCAGGCCTCTGCCCTAGCTTCTGCTGGCTTCCAGCCATCCTTAGCATTCTGTGCTTGGAGAGGCATCACTCCTGCCTCTGCGTCCCTTTCACATGGCTGTGTTCCTTGCTTTCTGTGTCCAAATTTCCCTCTTATAAGGACATCATTCCCTGGATTTAAAGCCCACCCTACCCCAGTATGAGCTCAGCTTAACTAATTGCATCTGCCGAGCCCCTATTTCCAAATAAGGTCACATTCACAAGGCCCAAGTGGACAGAAGCTTTGGGAGGATACTGTTCAATCCAGTGTACCCTCTCAGGTAGGCTGGGAAGGTATTTGTGACCCTGTTTGGAAATTGAAGAAACCGTGACTCAGAGGGAAAGCAATGGGCCCCGGGTCAAAGGCCAGGGCTTGACTGTCCTTGCATCTGGGAAGGCAGGCGGGGGCATTACTTTTCTCCTCGGGTTAAGTGCAGGTGGAGGGGCCTCCACAGGGGACAACAGTGTGCCTCTCTCCCAAATAGGCTTTCTCTTCCTTCATTTCCTCCTTTTCTCCTCTCTCTCTTCCTTCCTTTTTCCCTCTGCCTTGCCTTCCTGTTTCTCACTCAGCCTCACTGCTACCCTGACTTGTCACCTTGAAGGATTACAGGGAGACTGGTCAATAAACGGAGGACCAGAGCAAGGCGTTGGCCCCGTGTCTCCTGGGAAGGGGCTGAAAAGCTGCTACCCAAATCGGGACAGGAGAGACAGCACCAGTGTTGGCCATGCTGGAATGGGTGGGCAGGTCCCCCAGCTTTCAGATTCCACTAACCCTGAAGACCCAGGAGTCCCGGCCCAGTGTACATCTTTAACCAGTACAGGCATCCATGAGTGCCTGGGCCGGCCTTGCCAAGTGAGGTGGCAGCCATTCTGTAGGTCACAGTCTCTCAAATGCCAAGACTTGGGAGTGGCCCTGGCCTTCGTGCAGGGGCTCCCAGCACGTATTCCATCATCCCTTGTGCACCTGCAGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGTAAGGCCTGCTGCACCGGTCCCTGCACAGGTGCCTTTCTGCGGGTTTCTTCTCCTTGCCATTGGATTTGCTGGCAAGTTGCTCCTGTGATCCTGTATCATGGAGGATCTGCCTTAGGACCCCCTGTGCCAAGATCAAGCCCCTCTGATAGAGCATGTGGTGTCACTGCAGCGTCACATCACTTGGGCAGCCA
CTGTGAGTATACCCCTCCCAGGTGTGTGCAGTGTATCACACCCACTGAGGTTTTCTCGCAAAGCCGGTACATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGTCTGCTGTTGCTTCAGCTCAGAAAGTCCTGGCAGAACTGGTCCACAGGGAGACACAAGGGCCACCCAGACCAGGGGTGGAGGCTTGAACTTTGGCAAGCCACAGTCCTGGCTCCAGACTATGCTGTCTTGCTCCTTGGAGCACTCATGTGCTCGAACTTGGCCCAAGGAGTACTAAAGCCTCCCTGCGCCTTGCAGGCAGTTCAGTCACCATGGAGACCCTGTGTATTCTCAACCCAATATGCCTGATACTGATTGCCACCAGAGCTGAGCCCATCTAGGCTCAGGAGCTTCAAATGATGGCCTTGGCCCAGACCATCAGTGTCTCGCTTATATCAACTTTTGGGTTCTCAACTGGAAATAAGCAAAGCCTGCAGATGACTCCAGCAGTAACTCACCGGAAGCCTCCTTTCAGCCGAGGTTGACATCCACTGTTGGCTTTATAACCTTCCTACTGATCATAAACCAAATGTGATGGGGAGCTAGGACTCCTTCACCTCTCTTCCCTTTAGTAGTAGAGATGAGCCTTGGTGGAAGCCATTTGAGGGTTTATTTAGTCATTTCCTCCATCGCTGTGGGGACCAGAGTCCTGGCGGGAAGAGGAGGGCCAGCTCTGGGAATCTGTTGAGAGGCAGCTTTTCCATTGTTGAGTTGCTTAAGATCACTGGGGCCAAAACATAGACCAGCACTTTGCTACCATAGAGTAGAAGAAACCCGAGGTGACATGACAGCAGGAACCGTACTTACCAAGCATACAGACACGCACTGAAGCAACTCACATGGGCCATCTCGTGTAATTCGCATGCAGCCCCGTCAGGGTAGGTACCTTTATGATCACCACTTTTACCCACGATAAAACAAATCCTTTGGAAAGTTTTGTTACTTTTGAGGCGAAACCCATTTCACTGTGCTTTAGACTCTTGAGTTCTAGTTTGTCCATGAAGTCACACAGAAGTCACCCTTTCCTTGCGGTGGCAACAGGAGCACTGGCTCTGGACCAGGCACTGCTCTGAGGACTTTACATGTCTCGGCCTCCTTTGCCCCCCAGCTGCTGGCCTGTTTCTCCCCAGGCATGGTCTTCAGACCCTTCACCTTCTCTGACCCTCTTCTGGGCCCACTTGGGTTTCTCAGAGCCCTCCCCTCGGAGGTGATACTCAGAATTGCCTGGAACAGACCCGGCCTGGTGGAAACGTGGGCGGCACATGCAGTTCAAGTCACTGGAGGCTCACGGCTAACTTGTTTGCCAGAACCTTTGGACGTTTTCCACAAACTGCTGCCGAGGCATGTCTTCTGGCAGTGTTGGTGGATTTTAGCCTTTGAACGCAAACCAGGGCCTTCTGATTTGATCTTACCAGTTTTTGCCCAGCTGTCTGTCCTGCATTTTCAGATTTTGGTGTGAGGGTGGGTGGGGTAGAGAGGTAGCCCAGAATTATACCAGCCACTGATGTAGGTTGTCAGCTCAAGGCAGACCACTGCTCAGTGGCCACATGCCAGCAGAGTGTGTCATCTGTCTGTCCCCCACGAGTGGTGCTTCTCACCCAGCGAGGCACTCTCTTGGCTTGGGCCTAGGAATTTGCAATGGACGTGCCCCTTCTCCCACTCTCCTCCAGCCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGGTGAGTCAGCCCACAGCGGCTCTTCCCTAGTCCTTCCTGGTCCATGCTCGCATTCAGAGAGCACTTGGCAGGAGCCACATGGCATTGTAGCTCTTTTCTTATGTGACTGTCTTGGTCCATGCAGGCTGCTGTAACAAAATACCTAAGACTGGGTAACAAACAACAGAGAGCTTGGAGGCTGGGAAGTCCAGATCAAGGCGTTCCCAGACTGGGTGTCCATTGAGGCCCTGTTCCTCATGAGTGGCACCTTTTCACCATGTCCTCACATGGTGGAAGGGGCAAACAGGCTCCCTTGGGCCTCTTTTATGAGGACACTAATCCCATTCCCGAGGGCAGAGCCCCCATGACCTAATCACCCCCTAAAGGTCCCTCTTCACAGTACCATTGCACTGGAGGTTAAGTTTCAACATATGAATGTTGCGGGGATGCAAAGATTCAGGCGATAGCAGTGACCTTGTCCGCTGTCCTCTGTATTCATTTCTTGTAGTTGCCATAACAACCTGCCACAAAGTAAGTGCTTAAAACAACAAATGGATTCTGTCACATTTTGGGAGGCCAGAAGTCCTCAGTTAAGATGTTGGCAGGGCTAGTGTCTTCTGGAGGTTCGCAGGGAGCGTCTGTTCCAGGCCTCTGCCCTAGCTTCTGCTGGCTTCCAGCCATCCTTAGCATTCTGTGCTTGGAGAGGCATCACTCCTGCCTCTGCGTCCCTTTCACATGGCTGTGTTCCTTGCTTTCTGTGTCCAAATTTCCCTCTTATAAGGACATCATTCCCTGGATTTAAAGCCCACCCTACCCCAGTATGAGCTCAGCTTAACTAATTGCATCTGCCGAGCCCCTATTTCCAAATAAGGTCACATTCACAAGGCCCAAGTGGACAGAAGCTTTGGGAGGATACTGTTCAATCCAGTGTACCCTCTCAGGTAGGCTGGGAAGGTATTTGTGACCCTGTTTGGAAATTGAAGAAACCGTGACTCAGAGGGAAAGCAATGGGCCCCGGGTCAAAGGCCAGGGCTTGACTGTCCTTGCATCTGGGAAGGCAGGCGGGGGCATTACTTTTCTCCTCGGGTTAAGTGCAGGTGGAGGGGCCTCCACAGGGGACAACAGTGTGCCTCTCTCCCAAATAGGCTTTCTCTTCCTTCATTTCCTCCTTTTCTCCTCTCTCTCTTCCTTCCTTTTTCCCTCTGCCTTGCCTTCCTGTTTCTCACTCAGCCTCACTGCTACCCTGACTTGTCACCTTGAAGGATTACAGGGAGACTGGTCAATAAACGGAGGACCAGAGCAAGGCGTTGGCCCCGTGTCTCCTGGGAAGGGGCTGAAAAGCTGCTACCCAAATCGGGACAGGAGAGACAGCACCAGTGTTGGCCATGCTGGAATGGGTGGGCAGGTCCCCCAGCTTTCAGATTCCACTAACCCTGAAGACCCAGGAGTCCCGGCCCAGTGTACATCTTTAACCAGTACAGGCATCCATGAGTGCCTGGGCCGGCCTTGCCAAGTGAGGTGGCAGCCATTCTGTAGGTCACAGTCTCTCAAATGCCAAGACTTGGGAGTGGCCCTGGCCTTCGTGCAGGGGCTCCCAGCACGTATTCCATCATCCCTTGTGCACCTGCAGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGTAAGGCCTGCTGCACCGGTCCCTGCACAGGTGCCTTTCTGCGGGTTTCTTCTCCTTGCCATTGGATTTGCTGGCAAGTTGCTCCTGTGATCCTGTATCATGGAGGATCTGCCTTAGGACCCCCTGTGCCAAGATCAAGCCCCTCTGATAGAGCATGTGGTGTCACTGCAGCGTCACATCACTTGGGCAGCCA
Task1_train_31404
This alteration in NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL) on Chromosome X may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Child syndrome
CATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGTCTGCTGTTGCTTCAGCTCAGAAAGTCCTGGCAGAACTGGTCCACAGGGAGACACAAGGGCCACCCAGACCAGGGGTGGAGGCTTGAACTTTGGCAAGCCACAGTCCTGGCTCCAGACTATGCTGTCTTGCTCCTTGGAGCACTCATGTGCTCGAACTTGGCCCAAGGAGTACTAAAGCCTCCCTGCGCCTTGCAGGCAGTTCAGTCACCATGGAGACCCTGTGTATTCTCAACCCAATATGCCTGATACTGATTGCCACCAGAGCTGAGCCCATCTAGGCTCAGGAGCTTCAAATGATGGCCTTGGCCCAGACCATCAGTGTCTCGCTTATATCAACTTTTGGGTTCTCAACTGGAAATAAGCAAAGCCTGCAGATGACTCCAGCAGTAACTCACCGGAAGCCTCCTTTCAGCCGAGGTTGACATCCACTGTTGGCTTTATAACCTTCCTACTGATCATAAACCAAATGTGATGGGGAGCTAGGACTCCTTCACCTCTCTTCCCTTTAGTAGTAGAGATGAGCCTTGGTGGAAGCCATTTGAGGGTTTATTTAGTCATTTCCTCCATCGCTGTGGGGACCAGAGTCCTGGCGGGAAGAGGAGGGCCAGCTCTGGGAATCTGTTGAGAGGCAGCTTTTCCATTGTTGAGTTGCTTAAGATCACTGGGGCCAAAACATAGACCAGCACTTTGCTACCATAGAGTAGAAGAAACCCGAGGTGACATGACAGCAGGAACCGTACTTACCAAGCATACAGACACGCACTGAAGCAACTCACATGGGCCATCTCGTGTAATTCGCATGCAGCCCCGTCAGGGTAGGTACCTTTATGATCACCACTTTTACCCACGATAAAACAAATCCTTTGGAAAGTTTTGTTACTTTTGAGGCGAAACCCATTTCACTGTGCTTTAGACTCTTGAGTTCTAGTTTGTCCATGAAGTCACACAGAAGTCACCCTTTCCTTGCGGTGGCAACAGGAGCACTGGCTCTGGACCAGGCACTGCTCTGAGGACTTTACATGTCTCGGCCTCCTTTGCCCCCCAGCTGCTGGCCTGTTTCTCCCCAGGCATGGTCTTCAGACCCTTCACCTTCTCTGACCCTCTTCTGGGCCCACTTGGGTTTCTCAGAGCCCTCCCCTCGGAGGTGATACTCAGAATTGCCTGGAACAGACCCGGCCTGGTGGAAACGTGGGCGGCACATGCAGTTCAAGTCACTGGAGGCTCACGGCTAACTTGTTTGCCAGAACCTTTGGACGTTTTCCACAAACTGCTGCCGAGGCATGTCTTCTGGCAGTGTTGGTGGATTTTAGCCTTTGAACGCAAACCAGGGCCTTCTGATTTGATCTTACCAGTTTTTGCCCAGCTGTCTGTCCTGCATTTTCAGATTTTGGTGTGAGGGTGGGTGGGGTAGAGAGGTAGCCCAGAATTATACCAGCCACTGATGTAGGTTGTCAGCTCAAGGCAGACCACTGCTCAGTGGCCACATGCCAGCAGAGTGTGTCATCTGTCTGTCCCCCACGAGTGGTGCTTCTCACCCAGCGAGGCACTCTCTTGGCTTGGGCCTAGGAATTTGCAATGGACGTGCCCCTTCTCCCACTCTCCTCCAGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGGTGAGTCAGCCCACAGCGGCTCTTCCCTAGTCCTTCCTGGTCCATGCTCGCATTCAGAGAGCACTTGGCAGGAGCCACATGGCATTGTAGCTCTTTTCTTATGTGACTGTCTTGGTCCATGCAGGCTGCTGTAACAAAATACCTAAGACTGGGTAACAAACAACAGAGAGCTTGGAGGCTGGGAAGTCCAGATCAAGGCGTTCCCAGACTGGGTGTCCATTGAGGCCCTGTTCCTCATGAGTGGCACCTTTTCACCATGTCCTCACATGGTGGAAGGGGCAAACAGGCTCCCTTGGGCCTCTTTTATGAGGACACTAATCCCATTCCCGAGGGCAGAGCCCCCATGACCTAATCACCCCCTAAAGGTCCCTCTTCACAGTACCATTGCACTGGAGGTTAAGTTTCAACATATGAATGTTGCGGGGATGCAAAGATTCAGGCGATAGCAGTGACCTTGTCCGCTGTCCTCTGTATTCATTTCTTGTAGTTGCCATAACAACCTGCCACAAAGTAAGTGCTTAAAACAACAAATGGATTCTGTCACATTTTGGGAGGCCAGAAGTCCTCAGTTAAGATGTTGGCAGGGCTAGTGTCTTCTGGAGGTTCGCAGGGAGCGTCTGTTCCAGGCCTCTGCCCTAGCTTCTGCTGGCTTCCAGCCATCCTTAGCATTCTGTGCTTGGAGAGGCATCACTCCTGCCTCTGCGTCCCTTTCACATGGCTGTGTTCCTTGCTTTCTGTGTCCAAATTTCCCTCTTATAAGGACATCATTCCCTGGATTTAAAGCCCACCCTACCCCAGTATGAGCTCAGCTTAACTAATTGCATCTGCCGAGCCCCTATTTCCAAATAAGGTCACATTCACAAGGCCCAAGTGGACAGAAGCTTTGGGAGGATACTGTTCAATCCAGTGTACCCTCTCAGGTAGGCTGGGAAGGTATTTGTGACCCTGTTTGGAAATTGAAGAAACCGTGACTCAGAGGGAAAGCAATGGGCCCCGGGTCAAAGGCCAGGGCTTGACTGTCCTTGCATCTGGGAAGGCAGGCGGGGGCATTACTTTTCTCCTCGGGTTAAGTGCAGGTGGAGGGGCCTCCACAGGGGACAACAGTGTGCCTCTCTCCCAAATAGGCTTTCTCTTCCTTCATTTCCTCCTTTTCTCCTCTCTCTCTTCCTTCCTTTTTCCCTCTGCCTTGCCTTCCTGTTTCTCACTCAGCCTCACTGCTACCCTGACTTGTCACCTTGAAGGATTACAGGGAGACTGGTCAATAAACGGAGGACCAGAGCAAGGCGTTGGCCCCGTGTCTCCTGGGAAGGGGCTGAAAAGCTGCTACCCAAATCGGGACAGGAGAGACAGCACCAGTGTTGGCCATGCTGGAATGGGTGGGCAGGTCCCCCAGCTTTCAGATTCCACTAACCCTGAAGACCCAGGAGTCCCGGCCCAGTGTACATCTTTAACCAGTACAGGCATCCATGAGTGCCTGGGCCGGCCTTGCCAAGTGAGGTGGCAGCCATTCTGTAGGTCACAGTCTCTCAAATGCCAAGACTTGGGAGTGGCCCTGGCCTTCGTGCAGGGGCTCCCAGCACGTATTCCATCATCCCTTGTGCACCTGCAGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGTAAGGCCTGCTGCACCGGTCCCTGCACAGGTGCCTTTCTGCGGGTTTCTTCTCCTTGCCATTGGATTTGCTGGCAAGTTGCTCCTGTGATCCTGTATCATGGAGGATCTGCCTTAGGACCCCCTGTGCCAAGATCAAGCCCCTCTGATAGAGCATGTGGTGTCACTGCAGCGTCACATCACTTGGGCAGCCAAATTTGGAGAGCTGACGAGCTGGGATTGAACAGACATTCAGGTCACGGTCATCTATGGTCCCCTGACCT
CATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGTCTGCTGTTGCTTCAGCTCAGAAAGTCCTGGCAGAACTGGTCCACAGGGAGACACAAGGGCCACCCAGACCAGGGGTGGAGGCTTGAACTTTGGCAAGCCACAGTCCTGGCTCCAGACTATGCTGTCTTGCTCCTTGGAGCACTCATGTGCTCGAACTTGGCCCAAGGAGTACTAAAGCCTCCCTGCGCCTTGCAGGCAGTTCAGTCACCATGGAGACCCTGTGTATTCTCAACCCAATATGCCTGATACTGATTGCCACCAGAGCTGAGCCCATCTAGGCTCAGGAGCTTCAAATGATGGCCTTGGCCCAGACCATCAGTGTCTCGCTTATATCAACTTTTGGGTTCTCAACTGGAAATAAGCAAAGCCTGCAGATGACTCCAGCAGTAACTCACCGGAAGCCTCCTTTCAGCCGAGGTTGACATCCACTGTTGGCTTTATAACCTTCCTACTGATCATAAACCAAATGTGATGGGGAGCTAGGACTCCTTCACCTCTCTTCCCTTTAGTAGTAGAGATGAGCCTTGGTGGAAGCCATTTGAGGGTTTATTTAGTCATTTCCTCCATCGCTGTGGGGACCAGAGTCCTGGCGGGAAGAGGAGGGCCAGCTCTGGGAATCTGTTGAGAGGCAGCTTTTCCATTGTTGAGTTGCTTAAGATCACTGGGGCCAAAACATAGACCAGCACTTTGCTACCATAGAGTAGAAGAAACCCGAGGTGACATGACAGCAGGAACCGTACTTACCAAGCATACAGACACGCACTGAAGCAACTCACATGGGCCATCTCGTGTAATTCGCATGCAGCCCCGTCAGGGTAGGTACCTTTATGATCACCACTTTTACCCACGATAAAACAAATCCTTTGGAAAGTTTTGTTACTTTTGAGGCGAAACCCATTTCACTGTGCTTTAGACTCTTGAGTTCTAGTTTGTCCATGAAGTCACACAGAAGTCACCCTTTCCTTGCGGTGGCAACAGGAGCACTGGCTCTGGACCAGGCACTGCTCTGAGGACTTTACATGTCTCGGCCTCCTTTGCCCCCCAGCTGCTGGCCTGTTTCTCCCCAGGCATGGTCTTCAGACCCTTCACCTTCTCTGACCCTCTTCTGGGCCCACTTGGGTTTCTCAGAGCCCTCCCCTCGGAGGTGATACTCAGAATTGCCTGGAACAGACCCGGCCTGGTGGAAACGTGGGCGGCACATGCAGTTCAAGTCACTGGAGGCTCACGGCTAACTTGTTTGCCAGAACCTTTGGACGTTTTCCACAAACTGCTGCCGAGGCATGTCTTCTGGCAGTGTTGGTGGATTTTAGCCTTTGAACGCAAACCAGGGCCTTCTGATTTGATCTTACCAGTTTTTGCCCAGCTGTCTGTCCTGCATTTTCAGATTTTGGTGTGAGGGTGGGTGGGGTAGAGAGGTAGCCCAGAATTATACCAGCCACTGATGTAGGTTGTCAGCTCAAGGCAGACCACTGCTCAGTGGCCACATGCCAGCAGAGTGTGTCATCTGTCTGTCCCCCACGAGTGGTGCTTCTCACCCAGCGAGGCACTCTCTTGGCTTGGGCCTAGGAATTTGCAATGGACGTGCCCCTTCTCCCACTCTCCTCCAGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCAGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGGTGAGTCAGCCCACAGCGGCTCTTCCCTAGTCCTTCCTGGTCCATGCTCGCATTCAGAGAGCACTTGGCAGGAGCCACATGGCATTGTAGCTCTTTTCTTATGTGACTGTCTTGGTCCATGCAGGCTGCTGTAACAAAATACCTAAGACTGGGTAACAAACAACAGAGAGCTTGGAGGCTGGGAAGTCCAGATCAAGGCGTTCCCAGACTGGGTGTCCATTGAGGCCCTGTTCCTCATGAGTGGCACCTTTTCACCATGTCCTCACATGGTGGAAGGGGCAAACAGGCTCCCTTGGGCCTCTTTTATGAGGACACTAATCCCATTCCCGAGGGCAGAGCCCCCATGACCTAATCACCCCCTAAAGGTCCCTCTTCACAGTACCATTGCACTGGAGGTTAAGTTTCAACATATGAATGTTGCGGGGATGCAAAGATTCAGGCGATAGCAGTGACCTTGTCCGCTGTCCTCTGTATTCATTTCTTGTAGTTGCCATAACAACCTGCCACAAAGTAAGTGCTTAAAACAACAAATGGATTCTGTCACATTTTGGGAGGCCAGAAGTCCTCAGTTAAGATGTTGGCAGGGCTAGTGTCTTCTGGAGGTTCGCAGGGAGCGTCTGTTCCAGGCCTCTGCCCTAGCTTCTGCTGGCTTCCAGCCATCCTTAGCATTCTGTGCTTGGAGAGGCATCACTCCTGCCTCTGCGTCCCTTTCACATGGCTGTGTTCCTTGCTTTCTGTGTCCAAATTTCCCTCTTATAAGGACATCATTCCCTGGATTTAAAGCCCACCCTACCCCAGTATGAGCTCAGCTTAACTAATTGCATCTGCCGAGCCCCTATTTCCAAATAAGGTCACATTCACAAGGCCCAAGTGGACAGAAGCTTTGGGAGGATACTGTTCAATCCAGTGTACCCTCTCAGGTAGGCTGGGAAGGTATTTGTGACCCTGTTTGGAAATTGAAGAAACCGTGACTCAGAGGGAAAGCAATGGGCCCCGGGTCAAAGGCCAGGGCTTGACTGTCCTTGCATCTGGGAAGGCAGGCGGGGGCATTACTTTTCTCCTCGGGTTAAGTGCAGGTGGAGGGGCCTCCACAGGGGACAACAGTGTGCCTCTCTCCCAAATAGGCTTTCTCTTCCTTCATTTCCTCCTTTTCTCCTCTCTCTCTTCCTTCCTTTTTCCCTCTGCCTTGCCTTCCTGTTTCTCACTCAGCCTCACTGCTACCCTGACTTGTCACCTTGAAGGATTACAGGGAGACTGGTCAATAAACGGAGGACCAGAGCAAGGCGTTGGCCCCGTGTCTCCTGGGAAGGGGCTGAAAAGCTGCTACCCAAATCGGGACAGGAGAGACAGCACCAGTGTTGGCCATGCTGGAATGGGTGGGCAGGTCCCCCAGCTTTCAGATTCCACTAACCCTGAAGACCCAGGAGTCCCGGCCCAGTGTACATCTTTAACCAGTACAGGCATCCATGAGTGCCTGGGCCGGCCTTGCCAAGTGAGGTGGCAGCCATTCTGTAGGTCACAGTCTCTCAAATGCCAAGACTTGGGAGTGGCCCTGGCCTTCGTGCAGGGGCTCCCAGCACGTATTCCATCATCCCTTGTGCACCTGCAGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGTAAGGCCTGCTGCACCGGTCCCTGCACAGGTGCCTTTCTGCGGGTTTCTTCTCCTTGCCATTGGATTTGCTGGCAAGTTGCTCCTGTGATCCTGTATCATGGAGGATCTGCCTTAGGACCCCCTGTGCCAAGATCAAGCCCCTCTGATAGAGCATGTGGTGTCACTGCAGCGTCACATCACTTGGGCAGCCAAATTTGGAGAGCTGACGAGCTGGGATTGAACAGACATTCAGGTCACGGTCATCTATGGTCCCCTGACCT
Task1_train_31405
Here’s a variant in BGN (biglycan) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Meester-Loeys syndrome
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGAGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
Task1_train_31406
This gene mutation involves BGN (biglycan) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; X-linked spondyloepimetaphyseal dysplasia
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGAGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
Task1_train_31407
This variant affects the gene BGN (biglycan) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cardiovascular phenotype
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGAGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGC
Task1_train_31408
The following genetic variant occurs in BGN (biglycan) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; X-linked spondyloepimetaphyseal dysplasia
GGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGCTGTACAGGTGAGGCCAGCAGGGCACCGCCCAAGGGTGATGCCAGAGTCCCTCAGTGCTGTGTGGCCCCTCGCGCCCAGCCCCCCATCCTTACCTCCAGCCTTTGAGTCCGTGTCATTCTCCCGCTCACAGGCTGGGCCTAGGCCACAACCAGATCAGGATGATCGAGAACGGGAGCCTGAGCTTCCTGCCCACCCTCCGGGAGCTCCACTTGGACAACAACAAGTTGGCCAGGGTGCCCTCAGGGCTCCCAGACCTCAAGCTCCTCCAGGTGAGAGCTGGGCATGCACAGCCAGGTTCCCTAAGGCTGGGCTGGGGGAGGCGTGTGTGTCCCCGGGCAGTCCCTCAGTCCCCTGGCCCTCCTTCCCGACCGGCTCTGGGCATCTGCAAGGGAGCGGTCCTGATGCTCCCAGCTGGTGCTGAGGAGGCAGGGAGCAGGGGCTCCATGGTGGATACCGAGCAAGGCAGCCTGGTAGCTCTTGGACCCGAGGGTCTCCAGGTGGGTCGGACACCAGAAAGATGTGGCAGAGTCCAGGGAGTCGAGAAACTGTGGGCGTGGGAGTGCACAGATCTGTGCCAAGACAGTGACCGCCCAGGGCAGGAAGTAGGCTGACGAGGGGGAGCAGGGTCTTGCCTGGGATTCTATCGGGAGCTTCCATCCCTGGCCTGGCCCGCAACCAGGTGGGTGATCTTGGTCTTGCCCAGCCCTGCTCCATCCACAAGTGTTTGGAGCACCCCCATCCGCACCAGCTGCGAGCCAGCACCGCGCAGGCCATGCCCATGCTGGGCCGAGTGCGCCCTCTAGTGGCCATTGTCATGTTCACCAGCACTGGGCTCCCAGCCCAACCCAGCAGGCGCCTCGCCTGCCCACCTCCGCTCCTCCCAGAGACAGCAAGACGGTGGCTCCAGAGAGTTGGAGGGGCTGCTAGAGGGCGAGCTCCTCTGCTGACTGGAAGAAAGAGGAGGGCATCCCAAGGGCTCTTTCTCCTCTCATGCCCCATGGAGTGTGAGGGTGCTCCCCCGAGGCTCAGGCCACCTTTCCTCCACCTCACACCACCAAACACACCTCTACCCCAGCCCCGC
GGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCGAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGCTGTACAGGTGAGGCCAGCAGGGCACCGCCCAAGGGTGATGCCAGAGTCCCTCAGTGCTGTGTGGCCCCTCGCGCCCAGCCCCCCATCCTTACCTCCAGCCTTTGAGTCCGTGTCATTCTCCCGCTCACAGGCTGGGCCTAGGCCACAACCAGATCAGGATGATCGAGAACGGGAGCCTGAGCTTCCTGCCCACCCTCCGGGAGCTCCACTTGGACAACAACAAGTTGGCCAGGGTGCCCTCAGGGCTCCCAGACCTCAAGCTCCTCCAGGTGAGAGCTGGGCATGCACAGCCAGGTTCCCTAAGGCTGGGCTGGGGGAGGCGTGTGTGTCCCCGGGCAGTCCCTCAGTCCCCTGGCCCTCCTTCCCGACCGGCTCTGGGCATCTGCAAGGGAGCGGTCCTGATGCTCCCAGCTGGTGCTGAGGAGGCAGGGAGCAGGGGCTCCATGGTGGATACCGAGCAAGGCAGCCTGGTAGCTCTTGGACCCGAGGGTCTCCAGGTGGGTCGGACACCAGAAAGATGTGGCAGAGTCCAGGGAGTCGAGAAACTGTGGGCGTGGGAGTGCACAGATCTGTGCCAAGACAGTGACCGCCCAGGGCAGGAAGTAGGCTGACGAGGGGGAGCAGGGTCTTGCCTGGGATTCTATCGGGAGCTTCCATCCCTGGCCTGGCCCGCAACCAGGTGGGTGATCTTGGTCTTGCCCAGCCCTGCTCCATCCACAAGTGTTTGGAGCACCCCCATCCGCACCAGCTGCGAGCCAGCACCGCGCAGGCCATGCCCATGCTGGGCCGAGTGCGCCCTCTAGTGGCCATTGTCATGTTCACCAGCACTGGGCTCCCAGCCCAACCCAGCAGGCGCCTCGCCTGCCCACCTCCGCTCCTCCCAGAGACAGCAAGACGGTGGCTCCAGAGAGTTGGAGGGGCTGCTAGAGGGCGAGCTCCTCTGCTGACTGGAAGAAAGAGGAGGGCATCCCAAGGGCTCTTTCTCCTCTCATGCCCCATGGAGTGTGAGGGTGCTCCCCCGAGGCTCAGGCCACCTTTCCTCCACCTCACACCACCAAACACACCTCTACCCCAGCCCCGC
Task1_train_31409
This alteration occurs within gene BGN (biglycan) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
GTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGCTGTACAGGTGAGGCCAGCAGGGCACCGCCCAAGGGTGATGCCAGAGTCCCTCAGTGCTGTGTGGCCCCTCGCGCCCAGCCCCCCATCCTTACCTCCAGCCTTTGAGTCCGTGTCATTCTCCCGCTCACAGGCTGGGCCTAGGCCACAACCAGATCAGGATGATCGAGAACGGGAGCCTGAGCTTCCTGCCCACCCTCCGGGAGCTCCACTTGGACAACAACAAGTTGGCCAGGGTGCCCTCAGGGCTCCCAGACCTCAAGCTCCTCCAGGTGAGAGCTGGGCATGCACAGCCAGGTTCCCTAAGGCTGGGCTGGGGGAGGCGTGTGTGTCCCCGGGCAGTCCCTCAGTCCCCTGGCCCTCCTTCCCGACCGGCTCTGGGCATCTGCAAGGGAGCGGTCCTGATGCTCCCAGCTGGTGCTGAGGAGGCAGGGAGCAGGGGCTCCATGGTGGATACCGAGCAAGGCAGCCTGGTAGCTCTTGGACCCGAGGGTCTCCAGGTGGGTCGGACACCAGAAAGATGTGGCAGAGTCCAGGGAGTCGAGAAACTGTGGGCGTGGGAGTGCACAGATCTGTGCCAAGACAGTGACCGCCCAGGGCAGGAAGTAGGCTGACGAGGGGGAGCAGGGTCTTGCCTGGGATTCTATCGGGAGCTTCCATCCCTGGCCTGGCCCGCAACCAGGTGGGTGATCTTGGTCTTGCCCAGCCCTGCTCCATCCACAAGTGTTTGGAGCACCCCCATCCGCACCAGCTGCGAGCCAGCACCGCGCAGGCCATGCCCATGCTGGGCCGAGTGCGCCCTCTAGTGGCCATTGTCATGTTCACCAGCACTGGGCTCCCAGCCCAACCCAGCAGGCGCCTCGCCTGCCCACCTCCGCTCCTCCCAGAGACAGCAAGACGGTGGCTCCAGAGAGTTGGAGGGGCTGCTAGAGGGCGAGCTCCTCTGCTGACTGGAAGAAAGAGGAGGGCATCCCAAGGGCTCTTTCTCCTCTCATGCCCCATGGAGTGTGAGGGTGCTCCCCCGAGGCTCAGGCCACCTTTCCTCCACCTCACACCACCAAACACACCTCTACCCCAGCCCCGCCCCCACATGTCCTCAACCTGACCCACCTGAGACCCTCATCCTTGTCCCTGGTCACATCCAGTGCCTTAATCCTGGCTGACACCCACACAAATAACACGCCCATGCCTTGGTTTGCTCCTCCCAACAACGGGGAGCCTCTGGTGTGGCCCTTGAAGTAGGGTGCAGAGGCAACAGCAAAATGCCTCCTGGAGGCAGCGGGCTTGGCGTGGAGGGAGGGAGGCCTGCCGTGACCCGGCCTCTCTGCCTTCAGGTGGTCTATCTGCACTCCAACAACATCACCAAAGTGGGTGTCAACGACTTCTGTCCCATGGGCTTCGGGGTGAAGCGGGCCTACTACAACGGCATCAGCCTCTTCAACAACCCCGTGCCCTACTGGGAGGTGCAGCCGGCCACTTTCCGCTGCGTCACTGACCGCCTGGCCATCCAGTTTGGCAACTACAAAAAGTAGAGGCAGCTGCAGCCACCGCGGGGCCTCAGTGGGGGTCTCTGGGGAACACAGCCAGACATCCTGATGGGGAGGCAGAGCCAGGAAGCTAAGCCAGGGCCCAGCTGCGTCCAACCCAGCCCCCCACCTCGGGTCCCTGACCCCAGCTCGATGCCCCATCACCGCCTCTCCCTGGCTCCCAAGGGTGCAGGTGGGCGCAAGGCCCGGCCCCCATCACATGTTCCCTTGGCCTCAGAGCTGCCCCTGCTCTCCCACCACAGCCACCCAGAGGCACCCCATGAAGCTTTTTTCTCGTTCACTCCCAAACCCAAGTGTCCAAGGCTCCAGTCCTAGGAGAACAGTCCCTGGGTCAGCAGCCAGGAGGCGGTCCATAAGAATGGGGACAGTGGGCTCTGCCAGGGCTGCCGCACCTGTCCAGACACACATGTTCTGTTCCTCCTCCTCATGCATTTCCAGCCTTTCAACCCTCCCCGACTCTGCGGCTCCCCTCAGCCCCCTTGCAAGTTCATGGCCTGTCCCTCCCAGACCCCTGCTCCACTGGCCCTTCGACCAGTCCTCCCTTCTGTTCTCTCTTTCCCCGTCCTTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
GTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGAAAGGCTCAACAGTCCCCTCCCGCCACCTGGGGCAGAGCTAGGGCCCCTGCCCTCAGCACCTGCATTCTCCCCTGTGCCCTCTTCTCCTGGCAGACCTCCCTGAGACCCTGAATGAACTCCACCTAGACCACAACAAAATCCAGGCCATCGAACTGGAGGACCTGCTTCGCTACTCCAAGCTGTACAGGTGAGGCCAGCAGGGCACCGCCCAAGGGTGATGCCAGAGTCCCTCAGTGCTGTGTGGCCCCTCGCGCCCAGCCCCCCATCCTTACCTCCAGCCTTTGAGTCCGTGTCATTCTCCCGCTCACAGGCTGGTCCTAGGCCACAACCAGATCAGGATGATCGAGAACGGGAGCCTGAGCTTCCTGCCCACCCTCCGGGAGCTCCACTTGGACAACAACAAGTTGGCCAGGGTGCCCTCAGGGCTCCCAGACCTCAAGCTCCTCCAGGTGAGAGCTGGGCATGCACAGCCAGGTTCCCTAAGGCTGGGCTGGGGGAGGCGTGTGTGTCCCCGGGCAGTCCCTCAGTCCCCTGGCCCTCCTTCCCGACCGGCTCTGGGCATCTGCAAGGGAGCGGTCCTGATGCTCCCAGCTGGTGCTGAGGAGGCAGGGAGCAGGGGCTCCATGGTGGATACCGAGCAAGGCAGCCTGGTAGCTCTTGGACCCGAGGGTCTCCAGGTGGGTCGGACACCAGAAAGATGTGGCAGAGTCCAGGGAGTCGAGAAACTGTGGGCGTGGGAGTGCACAGATCTGTGCCAAGACAGTGACCGCCCAGGGCAGGAAGTAGGCTGACGAGGGGGAGCAGGGTCTTGCCTGGGATTCTATCGGGAGCTTCCATCCCTGGCCTGGCCCGCAACCAGGTGGGTGATCTTGGTCTTGCCCAGCCCTGCTCCATCCACAAGTGTTTGGAGCACCCCCATCCGCACCAGCTGCGAGCCAGCACCGCGCAGGCCATGCCCATGCTGGGCCGAGTGCGCCCTCTAGTGGCCATTGTCATGTTCACCAGCACTGGGCTCCCAGCCCAACCCAGCAGGCGCCTCGCCTGCCCACCTCCGCTCCTCCCAGAGACAGCAAGACGGTGGCTCCAGAGAGTTGGAGGGGCTGCTAGAGGGCGAGCTCCTCTGCTGACTGGAAGAAAGAGGAGGGCATCCCAAGGGCTCTTTCTCCTCTCATGCCCCATGGAGTGTGAGGGTGCTCCCCCGAGGCTCAGGCCACCTTTCCTCCACCTCACACCACCAAACACACCTCTACCCCAGCCCCGCCCCCACATGTCCTCAACCTGACCCACCTGAGACCCTCATCCTTGTCCCTGGTCACATCCAGTGCCTTAATCCTGGCTGACACCCACACAAATAACACGCCCATGCCTTGGTTTGCTCCTCCCAACAACGGGGAGCCTCTGGTGTGGCCCTTGAAGTAGGGTGCAGAGGCAACAGCAAAATGCCTCCTGGAGGCAGCGGGCTTGGCGTGGAGGGAGGGAGGCCTGCCGTGACCCGGCCTCTCTGCCTTCAGGTGGTCTATCTGCACTCCAACAACATCACCAAAGTGGGTGTCAACGACTTCTGTCCCATGGGCTTCGGGGTGAAGCGGGCCTACTACAACGGCATCAGCCTCTTCAACAACCCCGTGCCCTACTGGGAGGTGCAGCCGGCCACTTTCCGCTGCGTCACTGACCGCCTGGCCATCCAGTTTGGCAACTACAAAAAGTAGAGGCAGCTGCAGCCACCGCGGGGCCTCAGTGGGGGTCTCTGGGGAACACAGCCAGACATCCTGATGGGGAGGCAGAGCCAGGAAGCTAAGCCAGGGCCCAGCTGCGTCCAACCCAGCCCCCCACCTCGGGTCCCTGACCCCAGCTCGATGCCCCATCACCGCCTCTCCCTGGCTCCCAAGGGTGCAGGTGGGCGCAAGGCCCGGCCCCCATCACATGTTCCCTTGGCCTCAGAGCTGCCCCTGCTCTCCCACCACAGCCACCCAGAGGCACCCCATGAAGCTTTTTTCTCGTTCACTCCCAAACCCAAGTGTCCAAGGCTCCAGTCCTAGGAGAACAGTCCCTGGGTCAGCAGCCAGGAGGCGGTCCATAAGAATGGGGACAGTGGGCTCTGCCAGGGCTGCCGCACCTGTCCAGACACACATGTTCTGTTCCTCCTCCTCATGCATTTCCAGCCTTTCAACCCTCCCCGACTCTGCGGCTCCCCTCAGCCCCCTTGCAAGTTCATGGCCTGTCCCTCCCAGACCCCTGCTCCACTGGCCCTTCGACCAGTCCTCCCTTCTGTTCTCTCTTTCCCCGTCCTTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Task1_train_31410
With a mutation on Chromosome X in gene SLC6A8 (solute carrier family 6 member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Creatine transporter deficiency
ACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAA
ACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGTCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAA
Task1_train_31411
This variant lies on Chromosome X and affects the gene SLC6A8 (solute carrier family 6 member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not specified
CTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACT
CTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCAGAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACT
Task1_train_31412
Here is a mutation in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Creatine transporter deficiency
ACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAAC
ACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGGTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAAC
Task1_train_31413
Here is a variant affecting SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Creatine transporter deficiency
CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCT
CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAACTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCT
Task1_train_31414
A genetic alteration is present in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Creatine transporter deficiency
TCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGA
TCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCACGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGA
Task1_train_31415
A variant has been detected on Chromosome X in SLC6A8 (solute carrier family 6 member 8). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Creatine transporter deficiency
GGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAG
GGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCTGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAG
Task1_train_31416
Here is a variant affecting SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Creatine transporter deficiency
CAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCG
CAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGGGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCG
Task1_train_31417
Consider this mutation in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Is this a benign change or a disease-causing variant?
Pathogenic; Creatine transporter deficiency
ACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCA
ACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCTGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCA
Task1_train_31418
The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Adrenoleukodystrophy
GCAACTGCAGTCCACTGCAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGG
GCAACTGCAGTCCACTGCAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACGTGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGG
Task1_train_31419
Mutation context: Chromosome X, Gene ABCD1 (ATP binding cassette subfamily D member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Adrenoleukodystrophy
CCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCA
CCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTTGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCA
Task1_train_31420
This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Adrenoleukodystrophy
GTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCA
GTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCTGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCA
Task1_train_31421
This variant affects the gene ABCD1 (ATP binding cassette subfamily D member 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Adrenoleukodystrophy
GAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTC
GAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTTGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTC
Task1_train_31422
This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Adrenoleukodystrophy
ATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGG
ATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCCGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGG
Task1_train_31423
Here is a mutation in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Adrenoleukodystrophy
TGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGC
TGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACCGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGC
Task1_train_31424
The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Adrenoleukodystrophy
CAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTG
CAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCACCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTG
Task1_train_31425
Mutation context: Chromosome X, Gene ABCD1 (ATP binding cassette subfamily D member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Adrenoleukodystrophy
CAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAA
CAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCGACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAA
Task1_train_31426
This gene mutation involves ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is it associated with any clinical condition, or is it benign?
Pathogenic; Adrenoleukodystrophy
AGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAAC
AGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTGCTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAAC
Task1_train_31427
Consider a variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1). Determine its clinical classification and disease relevance.
Pathogenic; Adrenoleukodystrophy
AGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTG
AGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGAACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTG
Task1_train_31428
A variant has been detected on Chromosome X in ABCD1 (ATP binding cassette subfamily D member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Adrenoleukodystrophy
TTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAAT
TTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCGCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAAT
Task1_train_31429
This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Adrenoleukodystrophy
TTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATG
TTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCGCGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATG
Task1_train_31430
This alteration occurs within gene ABCD1 (ATP binding cassette subfamily D member 1) located on Chromosome X. Is it associated with a disease or is it a benign variant?
Pathogenic; Inborn genetic diseases
ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGC
ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCAGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGC
Task1_train_31431
A mutation on Chromosome X affecting ABCD1 (ATP binding cassette subfamily D member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Adrenoleukodystrophy
ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGC
ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCAGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGC
Task1_train_31432
Given a variant located on Chromosome X and affecting ABCD1 (ATP binding cassette subfamily D member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Adrenoleukodystrophy
CAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCT
CAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGAGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCT
Task1_train_31433
Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Adrenoleukodystrophy
TTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCC
TTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGGACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCC
Task1_train_31434
Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Adrenoleukodystrophy
TGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCC
TGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCGCTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCC
Task1_train_31435
Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Adrenoleukodystrophy
CCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCAC
CCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGAAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCAC
Task1_train_31436
Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Adrenoleukodystrophy
GGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCC
GGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGACATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCC
Task1_train_31437
A mutation found in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Adrenoleukodystrophy
ATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTT
ATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGAAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTT
Task1_train_31438
Here is a variant affecting ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Adrenoleukodystrophy
CTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAAT
CTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCCGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAAT
Task1_train_31439
This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
TTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTG
TTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGTCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTG
Task1_train_31440
A mutation in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Adrenoleukodystrophy
GGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGG
GGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCGGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGG
Task1_train_31441
A genomic change on Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Adrenoleukodystrophy
AAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGT
AAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGTGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGT
Task1_train_31442
This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Adrenoleukodystrophy
AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTC
AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCAGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTC
Task1_train_31443
Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not specified
AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTC
AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCAGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTC
Task1_train_31444
This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Adrenoleukodystrophy
AATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTC
AATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACAGAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTC
Task1_train_31445
A mutation on Chromosome X affecting ABCD1 (ATP binding cassette subfamily D member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not specified
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCAGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
Task1_train_31446
The following genetic variant occurs in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Adrenoleukodystrophy
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCAGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
Task1_train_31447
Given a variant located on Chromosome X and affecting ABCD1 (ATP binding cassette subfamily D member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Adrenoleukodystrophy
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCCGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAA
Task1_train_31448
A genomic change on Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Adrenoleukodystrophy
CCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAA
CCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCGCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAA
Task1_train_31449
A variant affecting Chromosome X, within the gene ABCD1 (ATP binding cassette subfamily D member 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Adrenoleukodystrophy
GGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTG
GGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTTCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTG
Task1_train_31450
This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Adrenoleukodystrophy
GATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATG
GATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCGGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATG
Task1_train_31451
The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Adrenoleukodystrophy
ATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGC
ATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCAGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGC
Task1_train_31452
With a mutation on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Adrenoleukodystrophy
CAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTC
CAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGTTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTC
Task1_train_31453
This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Adrenoleukodystrophy
GTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTC
GTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCATGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTC
Task1_train_31454
This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Adrenoleukodystrophy
CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCC
CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCTGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCC
Task1_train_31455
This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Inborn genetic diseases
CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCC
CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCTGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCC
Task1_train_31456
With a mutation on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Adrenoleukodystrophy
TTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACAC
TTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGACGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACAC
Task1_train_31457
The gene ABCD1 (ATP binding cassette subfamily D member 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Adrenoleukodystrophy
GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAG
GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTTGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAG
Task1_train_31458
A variant found in Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Adrenoleukodystrophy
GAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGA
GAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCAAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGA
Task1_train_31459
This variant affects gene ABCD1 (ATP binding cassette subfamily D member 1) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; not provided
GGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGC
GGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCGGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGC
Task1_train_31460
This variant lies on Chromosome X and affects the gene ABCD1 (ATP binding cassette subfamily D member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Adrenoleukodystrophy
GAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCT
GAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCACATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCT
Task1_train_31461
A variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Adrenoleukodystrophy
CTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAAC
CTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATACACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAAC
Task1_train_31462
Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Adrenoleukodystrophy
TCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGG
TCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCATCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGG
Task1_train_31463
Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Adrenoleukodystrophy
TGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCG
TGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGATCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCG
Task1_train_31464
This variant affects the gene ABCD1 (ATP binding cassette subfamily D member 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Adrenoleukodystrophy
GTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCG
GTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCCGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCG
Task1_train_31465
Consider a variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1). Determine its clinical classification and disease relevance.
Pathogenic; Adrenoleukodystrophy
CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTC
CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACTGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTC
Task1_train_31466
This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; ABCD1-related disorder
CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTC
CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACTGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTC
Task1_train_31467
This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not?
Pathogenic; Adrenoleukodystrophy
TTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCT
TTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACGACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCT
Task1_train_31468
A variant has been detected on Chromosome X in ABCD1 (ATP binding cassette subfamily D member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Adrenoleukodystrophy
CTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCTCAAAGAG
CTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACGCTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCTCAAAGAG
Task1_train_31469
Here is a mutation in L1CAM (L1 cell adhesion molecule) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; L1CAM-related disorder
TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCCTGGGAGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAGGTGCTTTGTACTGGTTTAGAGGGCTGGGTACCCCAGAGAGAACGATGCCACCGGGGCACATCATGAGTCTTCCACTGAGCCATGGAGCTGTGTCCCTTGAGACAGGGGAAGAGGCTCCTGCCGCTGGCCACACTCTACTCTCATGTTTGAGCAGTGAAGGGCCCGGCCATGGTGACAGCTAAGCTTGGTCTCAGGAGGCCAGCAGAGGCGAGGATCCTGAGCCCCAGCAACAATGTGACAGCAACACCCAAGGCAGCCAACAGCCAGGCCTGGCAGGGTGGGTGGAAGGCCCGGGCTCTGGGAAGGGGCAGGGAAGCATCAGGACTGTGTGGCTGGGCCACACCCGGGCCCGCCTGGCAGGTCGCTCCTAGCACCTCCCACAGTGTGACGTGGACAGGGGAAGTAAGTGTTCCGCGAAATAACAAAAGGTGCTCTTGATTTTCAGGTTTTATTTGCCTGTTATAATTCTGATATTATGTACATATATATATATACTTTTGTTTTTTTGTAGAGGGCTTATCAGTAGACCAAGCACAGGCATACAGGGAGGCTGTGGCTGCTGAGCAGTGCTGGGAGAACCAATCTTTCCTTTTTTTTTGTCTGTTTTTATTTTTCCTGGGATGGGTTCATCAAAGCTAATTGCTATCAATCCTAGAAACCACCTAGGGACTCAGACATCTGCCTACACACTAGTGGCGTAAAGGGAAGGACAGGGGTACAAACTTTCAAAGTCACGGTGTATTTACATTCCCAAGGTGGGGGCGGGAGGAGGCTGAGGAAGACAACTGTTCAGACGATAGGGAGGGCAGGGCTGCTAAGGGGTCCTGGGGGGTGGGGGCGGCTGGAAGAGGCCGGCCAGTGGGCAGTGGGAGGAGGTGTGCCCGCCCCGCAGCCAGGTAGTGACGGAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCC
TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCCTGGGAGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAGGTGCTTTGTACTGGTTTAGAGGGCTGGGTACCCCAGAGAGAACGATGCCACCGGGGCACATCATGAGTCTTCCACTGAGCCATGGAGCTGTGTCCCTTGAGACAGGGGAAGAGGCTCCTGCCGCTGGCCACACTCTACTCTCATGTTTGAGCAGTGAAGGGCCCGGCCATGGTGACAGCTAAGCTTGGTCTCAGGAGGCCAGCAGAGGCGAGGATCCTGAGCCCCAGCAACAATGTGACAGCAACACCCAAGGCAGCCAACAGCCAGGCCTGGCAGGGTGGGTGGAAGGCCCGGGCTCTGGGAAGGGGCAGGGAAGCATCAGGACTGTGTGGCTGGGCCACACCCGGGCCCGCCTGGCAGGTCGCTCCTAGCACCTCCCACAGTGTGACGTGGACAGGGGAAGTAAGTGTTCCGCGAAATAACAAAAGGTGCTCTTGATTTTCAGGTTTTATTTGCCTGTTATAATTCTGATATTATGTACATATATATATATACTTTTGTTTTTTTGTAGAGGGCTTATCAGTAGACCAAGCACAGGCATACAGGGAGGCTGTGGCTGCTGAGCAGTGCTGGGAGAACCAATCTTTCCTTTTTTTTTGTCTGTTTTTATTTTTCCTGGGATGGGTTCATCAAAGCTAATTGCTATCAATCCTAGAAACCACCTAGGGACTCAGACATCTGCCTACACACTAGTGGCGTAAAGGGAAGGACAGGGGTACAAACTTTCAAAGTCACGGTGTATTTACATTCCCAAGGTGGGGGCGGGAGGAGGCTGAGGAAGACAACTGTTCAGACGATAGGGAGGGCAGGGCTGCTAAGGGGTCCTGGGGGGTGGGGGCGGCTGGAAGAGGCCGGCCAGTGGGCAGTGGGAGGAGGTGTGCCCGCCCCGCAGCCAGGTAGTGACGGAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACAAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCC
Task1_train_31470
Mutation context: Chromosome X, Gene L1CAM (L1 cell adhesion molecule). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; L1 syndrome
TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCCTGGGAGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAGGTGCTTTGTACTGGTTTAGAGGGCTGGGTACCCCAGAGAGAACGATGCCACCGGGGCACATCATGAGTCTTCCACTGAGCCATGGAGCTGTGTCCCTTGAGACAGGGGAAGAGGCTCCTGCCGCTGGCCACACTCTACTCTCATGTTTGAGCAGTGAAGGGCCCGGCCATGGTGACAGCTAAGCTTGGTCTCAGGAGGCCAGCAGAGGCGAGGATCCTGAGCCCCAGCAACAATGTGACAGCAACACCCAAGGCAGCCAACAGCCAGGCCTGGCAGGGTGGGTGGAAGGCCCGGGCTCTGGGAAGGGGCAGGGAAGCATCAGGACTGTGTGGCTGGGCCACACCCGGGCCCGCCTGGCAGGTCGCTCCTAGCACCTCCCACAGTGTGACGTGGACAGGGGAAGTAAGTGTTCCGCGAAATAACAAAAGGTGCTCTTGATTTTCAGGTTTTATTTGCCTGTTATAATTCTGATATTATGTACATATATATATATACTTTTGTTTTTTTGTAGAGGGCTTATCAGTAGACCAAGCACAGGCATACAGGGAGGCTGTGGCTGCTGAGCAGTGCTGGGAGAACCAATCTTTCCTTTTTTTTTGTCTGTTTTTATTTTTCCTGGGATGGGTTCATCAAAGCTAATTGCTATCAATCCTAGAAACCACCTAGGGACTCAGACATCTGCCTACACACTAGTGGCGTAAAGGGAAGGACAGGGGTACAAACTTTCAAAGTCACGGTGTATTTACATTCCCAAGGTGGGGGCGGGAGGAGGCTGAGGAAGACAACTGTTCAGACGATAGGGAGGGCAGGGCTGCTAAGGGGTCCTGGGGGGTGGGGGCGGCTGGAAGAGGCCGGCCAGTGGGCAGTGGGAGGAGGTGTGCCCGCCCCGCAGCCAGGTAGTGACGGAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCC
TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCCTGGGAGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAGGTGCTTTGTACTGGTTTAGAGGGCTGGGTACCCCAGAGAGAACGATGCCACCGGGGCACATCATGAGTCTTCCACTGAGCCATGGAGCTGTGTCCCTTGAGACAGGGGAAGAGGCTCCTGCCGCTGGCCACACTCTACTCTCATGTTTGAGCAGTGAAGGGCCCGGCCATGGTGACAGCTAAGCTTGGTCTCAGGAGGCCAGCAGAGGCGAGGATCCTGAGCCCCAGCAACAATGTGACAGCAACACCCAAGGCAGCCAACAGCCAGGCCTGGCAGGGTGGGTGGAAGGCCCGGGCTCTGGGAAGGGGCAGGGAAGCATCAGGACTGTGTGGCTGGGCCACACCCGGGCCCGCCTGGCAGGTCGCTCCTAGCACCTCCCACAGTGTGACGTGGACAGGGGAAGTAAGTGTTCCGCGAAATAACAAAAGGTGCTCTTGATTTTCAGGTTTTATTTGCCTGTTATAATTCTGATATTATGTACATATATATATATACTTTTGTTTTTTTGTAGAGGGCTTATCAGTAGACCAAGCACAGGCATACAGGGAGGCTGTGGCTGCTGAGCAGTGCTGGGAGAACCAATCTTTCCTTTTTTTTTGTCTGTTTTTATTTTTCCTGGGATGGGTTCATCAAAGCTAATTGCTATCAATCCTAGAAACCACCTAGGGACTCAGACATCTGCCTACACACTAGTGGCGTAAAGGGAAGGACAGGGGTACAAACTTTCAAAGTCACGGTGTATTTACATTCCCAAGGTGGGGGCGGGAGGAGGCTGAGGAAGACAACTGTTCAGACGATAGGGAGGGCAGGGCTGCTAAGGGGTCCTGGGGGGTGGGGGCGGCTGGAAGAGGCCGGCCAGTGGGCAGTGGGAGGAGGTGTGCCCGCCCCGCAGCCAGGTAGTGACGGAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACAAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCC
Task1_train_31471
With a mutation on Chromosome X in gene L1CAM (L1 cell adhesion molecule), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Spastic paraplegia
GAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCG
GAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTAGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCG
Task1_train_31472
The variant affects gene L1CAM (L1 cell adhesion molecule), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hydrocephalus due to aqueductal stenosis
AGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCC
AGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCACAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCC
Task1_train_31473
A change on Chromosome X affects gene L1CAM (L1 cell adhesion molecule). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Spastic paraplegia
CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCC
CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCATGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCC
Task1_train_31474
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; X-linked hydrocephalus syndrome
CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCC
CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCATGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCC
Task1_train_31475
This variant affects the gene L1CAM (L1 cell adhesion molecule) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Spastic paraplegia
TAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCAC
TAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCTGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCAC
Task1_train_31476
Chromosome X houses a mutation in gene L1CAM (L1 cell adhesion molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; MASA syndrome
ATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGC
ATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATTCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGC
Task1_train_31477
The variant affects gene L1CAM (L1 cell adhesion molecule), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; L1 syndrome
TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCA
TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCATTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCA
Task1_train_31478
Mutation context: Chromosome X, Gene L1CAM (L1 cell adhesion molecule). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Spastic paraplegia
TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCA
TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCATTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCA
Task1_train_31479
This sequence change occurs on Chromosome X, altering L1CAM (L1 cell adhesion molecule). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; L1 syndrome
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCTGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
Task1_train_31480
Given a variant located on Chromosome X and affecting L1CAM (L1 cell adhesion molecule), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Spastic paraplegia
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCTGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
Task1_train_31481
A variant has been detected on Chromosome X in L1CAM (L1 cell adhesion molecule). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Hydrocephalus due to aqueductal stenosis
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCTGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCC
Task1_train_31482
The gene L1CAM (L1 cell adhesion molecule) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; X-linked hydrocephalus syndrome
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCTGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
Task1_train_31483
This variant impacts the gene L1CAM (L1 cell adhesion molecule) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; Spastic paraplegia
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCTGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
Task1_train_31484
A variant was discovered on Chromosome X, affecting L1CAM (L1 cell adhesion molecule). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; L1CAM-related disorders
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCTGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCC
Task1_train_31485
A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Spastic paraplegia
GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAG
GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGAACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAG
Task1_train_31486
Assess the clinical impact of this variant on gene L1CAM (L1 cell adhesion molecule), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; X-linked hydrocephalus syndrome
GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAG
GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGTACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAG
Task1_train_31487
Here is a genetic alteration in L1CAM (L1 cell adhesion molecule) on Chromosome X. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Spastic paraplegia
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31488
This variant impacts the gene L1CAM (L1 cell adhesion molecule) on Chromosome X. Is the change likely to result in a pathogenic outcome?
Pathogenic; L1 syndrome
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31489
Given this variant in gene L1CAM (L1 cell adhesion molecule) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; X-linked hydrocephalus syndrome
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31490
Gene L1CAM (L1 cell adhesion molecule) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; X-linked complicated corpus callosum dysgenesis
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31491
A variant has been detected on Chromosome X in L1CAM (L1 cell adhesion molecule). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; MASA syndrome
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31492
This variant affects gene L1CAM (L1 cell adhesion molecule) located on Chromosome X. Evaluate its biological effect and specify any disease association.
Pathogenic; X-linked hydrocephalus syndrome
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31493
A variant was discovered in gene L1CAM (L1 cell adhesion molecule), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; X-linked complicated corpus callosum dysgenesis
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31494
A mutation in L1CAM (L1 cell adhesion molecule), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; MASA syndrome
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCAGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGG
Task1_train_31495
A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; MASA syndrome
CACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGA
CACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCTTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGA
Task1_train_31496
Chromosome X houses a mutation in gene L1CAM (L1 cell adhesion molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Spastic paraplegia
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCTGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
Task1_train_31497
A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Inborn genetic diseases
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCTGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
Task1_train_31498
The gene L1CAM (L1 cell adhesion molecule) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; L1 syndrome
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCTGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGAC
Task1_train_31499
A genetic alteration is present in L1CAM (L1 cell adhesion molecule) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Spastic paraplegia
TAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCGCTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGACA
TAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTCCTGTCTCTGCTCTCGACGCCTGGGAAGGGGTCTGGGCAGGGTAGAGGTGGGAGCCAAGCTGTTCTTGAGGAAGCCTGGAGTTGTCAGATGGACCTATGGTGGGAAGGGCCATGCCTGAGGGTGAAAGGAGTCAGGGAGAGAGTGCAGAGCCTCTGAGACTCACTGGCCTTGACCCGGAGGTCAATGGGTTCCTTCTGAATGATGGTCCTGGTGCCTGGGAAGTGGGCGTGGCAGATGTAGTCTGAGTGGTTGTCGGAGGTGAGCACATTGGCAAAGTAGAGGTTGCCGTTCTGGCCCATCGTCACCCACTCGTCCTGCTTGATGTGCAAGATCTCTGCAGGGGGCAAGGAGGCCGAAGTCATGACCCCGTCCAGGAAGACACCCCCGCTAACACCCCGACCCCACGAGGCAGCCGCTCGCCGGCACCCACTGCTGTTCATCCAGTAGATCCGGAGAGGCTCTGCACTTGGGGGAGGGTTGCAAGGCAGAACCACTGACTCCCCTTCCTCCACCTCCACGGGCTTCACTGTCTCCTTTGGCCACTTGGGGGCACCTAGAAGGGACAGACGGGCTGACACTCTCCTCCTGGTCCAGATGGTGCTAGGCAGGAGAAGGGAGGTGGGGGCAGGGGGGTGGCGGGCTACACCAGGGATGGACGAGGGGGCGAGAGGGTCAGGCCAGTAGAAACTTCACAGAAAAGGAGGCAGACACTCTGGATACCTTCTGGACTCATAGCAGAGACTAGCACTTAGGGAGGCCAGGGTGAGCAGGAGACCAGGAGGCCAGGAAGGGTTAACCTTCCACGGTTCTCAGCTCTCCCTGCCCACCCTAGGAAAGGACGGGTGGGGGGAGGCTGAGGCTGAGGTGCAGTGATGGGGGAGGGGAGCTGTGGAGGGATGCAGGAGTCACAGACCCTTCCATCATCCTGACACAGAAACCATGGCAACGGTTCCCAAGGTAACTGGAGGGGTGGGGAGGGGAGAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCAAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGACAGAGCCGTGGAGCAAGAGAGACCAAGTCGGAGGTGGAGGGGAGGAGATGGAGAGCCAAGTGGAAAAGCCAGAGAAGAGGGGCCCTGCTAAGGAGTGCAGGTGTAGACAGAGATGACTGCAGTGACTCAGGCAGGTCTGCCCAGAATCAGTCACTCCCCCCACCAGCCCGCCCCCCCCTCCCCCCGCCACCTTCCTGCTCAGCCATGAGGCAGGCACCAGGAAAGCCTGAGGGAGTGAAAGGGCATGAGATGACCGGAAGTGCAATGGAGACAGAGACAGGGCAAAGGAGGAGACTGCACAAGAAACAAGATGGGCCAGGGGAGAAGCTGGGGTGGGGTGGAGGGCTGGCAGGACACCCAGGCCCCTCGCCACGAGACAACTGGCTGACAGCAGCTTCCAGCCCACAATCCCACACGAACTCCGGGACCTGCCCTCCCTGGTCCCTGCAGCGCCTCGCACCCTCGGCCATGAGCCGGATCTCATGGGACATGGCGGTGCCCAGCTTATTGCTGGCAAAGCAGCGGTAGATGCCCTGGAACCTCTGAGCAAAGTTGCTGTTGTTGCCCGTGATGGTGAAGGAGCCAGAGTGGGGCGACTGGTACACGGTCACACCCAGCTCTTCCTTGGGTTTGAAGTGGACACCATCCCTCGTCCAGCGGAACCTGTGGGCGGAAAAAGGCCCAGAGGCCTGAGGCCCTGGAACCCAACGGGGGCTGGAACAGGCTGGAGGGACAGGTGCAAGCAGCCAGGGCCCCCAGGGGATGGACTGGGAGATGGCGAGGACTTGGGGTGATTAGCAAGGTTTGGGGCTTCTGGGCTTAGAAGTTAGGCAGTCCAGGGAGGCACAAGGCCGGGGTCAGTGGCAGGCAACAGGGGCTGAGACGGCAGAGATCACTCACTGCACTTCGGGCTTGCCACTGGCCTCACACTTGAGGCTGATGTCATCTGTGGGGAAGACAACCAGGCGCCGTGGAGACTGTTCCGTGATGACAGGTGGCTCCATCACTGAAGACAGGGTGGAGAGAGCGGTGGTGAGGGTGCTGCCTGGCTGGTGTCATAGCCTCAGCACCTGTCCCATCGTGAGGGAAGCAGGGTCCAGAGCCCCTGGAGGCCCCATGGCCACAGGGGGACGAACGGAGGGGAAGAACAAAAGAGGCTTGTGGGACATGAAAAGAGGGAGAGAGGGGACAGCCACGTAAGTTACAAAGAGATGCCTGAGAAAGACAAAAAGGGTATGACAGAAAGAAGCGGGGGCAACAAAAGCCAAGACACAGAAACCAAGAAGGACA