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 |
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Task1_train_31000 | With a mutation on Chromosome X in gene DOCK11 (dedicator of cytokinesis 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; DOCK11 deficiency | CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCTGGGGTTCCACCATGTTGGCCAGGATGGTCTCGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCTGGCCGCTTTTAATTTTTTTCGAGACAGGGTCTGGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCACAGCTCACGGCAGCCTTGACCTCCTGTGCTCAAGCGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTTATTTTTGTT... | CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCTGGGGTTCCACCATGTTGGCCAGGATGGTCTCGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCTGGCCGCTTTTAATTTTTTTCGAGACAGGGTCTGGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCACAGCTCACGGCAGCCTTGACCTCCTGTGCTCAAGCGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTTATTTTTGTT... |
Task1_train_31001 | Given this variant in gene UBE2A (ubiquitin conjugating enzyme E2 A) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Syndromic X-linked intellectual disability Nascimento type | TAGGAGCTGAGAGTAGTTCCCAGGTGGCAGCTAGTAAGGAAATAGGGACCAAAGTCCTACAACTGCAATGAACTGGGCTTGGCCAACAACTTGTAATTTGTTAAGCAGTGATGAAAACGAATATACTTGCTTTTGTAGATCTTGCTTTTGTTGATTTCATATGTGTGTATGTGTGTGTTAGTAGACTGCAAGTTCTTAGATGAGAGGAAAAAAAGTTTTTTTTTTTTAATTTTTGTACCCCCTTCCTACTACAGCCATAATGTGATGCTATTAGGGAGACTTGCCTTAACTGATATGTTGGAGTTAATGGGAGATAGAAA... | TAGGAGCTGAGAGTAGTTCCCAGGTGGCAGCTAGTAAGGAAATAGGGACCAAAGTCCTACAACTGCAATGAACTGGGCTTGGCCAACAACTTGTAATTTGTTAAGCAGTGATGAAAACGAATATACTTGCTTTTGTAGATCTTGCTTTTGTTGATTTCATATGTGTGTATGTGTGTGTTAGTAGACTGCAAGTTCTTAGATGAGAGGAAAAAAAGTTTTTTTTTTTTAATTTTTGTACCCCCTTCCTACTACAGCCATAATGTGATGCTATTAGGGAGACTTGCCTTAACTGATATGTTGGAGTTAATGGGAGATAGAAA... |
Task1_train_31002 | A mutation in UBE2A (ubiquitin conjugating enzyme E2 A), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Syndromic X-linked intellectual disability Nascimento type | GTAGACTGCAAGTTCTTAGATGAGAGGAAAAAAAGTTTTTTTTTTTTAATTTTTGTACCCCCTTCCTACTACAGCCATAATGTGATGCTATTAGGGAGACTTGCCTTAACTGATATGTTGGAGTTAATGGGAGATAGAAATCCTTGACCATGAAAGTACCTGTTGTTAAGCAGCAGCTAGAATCACTACCATTGTCAAGTGCCTCCTGCTTCTCATGTTAGAAACAAATTCCTGCACATCTGATATCTTCTGGACATCTTCACGGGGATGTCTCACCAGTCCCATGAACTCAGTAAGTCCCACCCAAAATTTCCTTTTCC... | GTAGACTGCAAGTTCTTAGATGAGAGGAAAAAAAGTTTTTTTTTTTTAATTTTTGTACCCCCTTCCTACTACAGCCATAATGTGATGCTATTAGGGAGACTTGCCTTAACTGATATGTTGGAGTTAATGGGAGATAGAAATCCTTGACCATGAAAGTACCTGTTGTTAAGCAGCAGCTAGAATCACTACCATTGTCAAGTGCCTCCTGCTTCTCATGTTAGAAACAAATTCCTGCACATCTGATATCTTCTGGACATCTTCACGGGGATGTCTCACCAGTCCCATGAACTCAGTAAGTCCCACCCAAAATTTCCTTTTCC... |
Task1_train_31003 | A mutation in UBE2A (ubiquitin conjugating enzyme E2 A), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | ATCTCTTCATATCACATCTTAACAATTCTTGAATGAGATCCAGTTTGTCCATGCCTTGTAAGTAAGTTTATAACCTACTATGCTTTAGGGCCTCCTGCTACCTTAGGTTGACATATATTTAAGAAAAATAATTTCATTTCAATAGTAGCATAAACATTAGAAAAATAAATTTGCTGGAAACATGAATGCAATCTAAACCAAATGTGATTTTAAAATTATTTCTGCCATTAATTCCCTCCATATGTGTGAATAATTGAGTTGATTTTATAGTGAAGTACCTTATGAGCCATACTTAAGGGTTTCTGAGAGGGACTATGAAG... | ATCTCTTCATATCACATCTTAACAATTCTTGAATGAGATCCAGTTTGTCCATGCCTTGTAAGTAAGTTTATAACCTACTATGCTTTAGGGCCTCCTGCTACCTTAGGTTGACATATATTTAAGAAAAATAATTTCATTTCAATAGTAGCATAAACATTAGAAAAATAAATTTGCTGGAAACATGAATGCAATCTAAACCAAATGTGATTTTAAAATTATTTCTGCCATTAATTCCCTCCATATGTGTGAATAATTGAGTTGATTTTATAGTGAAGTACCTTATGAGCCATACTTAAGGGTTTCTGAGAGGGACTATGAAG... |
Task1_train_31004 | This variant lies on Chromosome X and affects the gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Syndromic X-linked intellectual disability 14 | TCTTCTCTCATTCTCTAGAAAGAAACATCAACACAAGCCTTCAAATAAAATAATCATCACCAAAACCCTAATAAATCCTGAAGTCATGGTAGGCCCCAACTGAATAATCTTTCCTTCCTACTTTCTACAAAGTGGCATTCTACCACCGTTATCCCCACTCCACCCAGAAAACGAAAGACAATGAAGACCAGAACCTGCTAATATTATTCTTCCACTGCTGCCTTACTATCTCTCCAGAGGCTTTCAGAATATCAAATGAGTGTCTCTGGGACAACCTAAGAACATTCCACGTTTGTAGAGTGAACTCCTGGTCCAACAAC... | TCTTCTCTCATTCTCTAGAAAGAAACATCAACACAAGCCTTCAAATAAAATAATCATCACCAAAACCCTAATAAATCCTGAAGTCATGGTAGGCCCCAACTGAATAATCTTTCCTTCCTACTTTCTACAAAGTGGCATTCTACCACCGTTATCCCCACTCCACCCAGAAAACGAAAGACAATGAAGACCAGAACCTGCTAATATTATTCTTCCACTGCTGCCTTACTATCTCTCCAGAGGCTTTCAGAATATCAAATGAGTGTCTCTGGGACAACCTAAGAACATTCCACGTTTGTAGAGTGAACTCCTGGTCCAACAAC... |
Task1_train_31005 | The gene LOC130068621, NDUFA1 (ATAC-STARR-seq lymphoblastoid active region 29902| NADH:ubiquinone oxidoreductase subunit A1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 12 | ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATAGCCGGGTGTGGTGGCATGCGCCTGTAGTCTCAGCTACGCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTAGCCTGGGCAAGAGAGCGAGACTCCGTCTCAAAAACAAATAAATAAATAAATAACCAAGACAGCAAGGAACATTTCCCATATGTGAAGCCTGTGGTGCTAGCTACCAGTTCCCCAAACACAACCCCTCTCCCCAACACCTTGGCTCGGGTATAT... | ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATAGCCGGGTGTGGTGGCATGCGCCTGTAGTCTCAGCTACGCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTAGCCTGGGCAAGAGAGCGAGACTCCGTCTCAAAAACAAATAAATAAATAAATAACCAAGACAGCAAGGAACATTTCCCATATGTGAAGCCTGTGGTGCTAGCTACCAGTTCCCCAAACACAACCCCTCTCCCCAACACCTTGGCTCGGGTATAT... |
Task1_train_31006 | This alteration in NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 12 | GTCGCTCCCATATCCTCTGGTCCCACGGGTTTCGCCGAACGGGTGGATTTATAAACCACGCCGAGACTCTCGGGCTCATTTTCCTCTTCCTCTTCGCTGCTCAAGTCGCCGTAAGCCGCCTTCTGTTTACCACTGTCACGGGTCTTCTGTATCATTGGATTGTGGGTCACCCGCTTCTTTTCCGGTCGAACCACAGTGCAGCCTTCGTCGCTACTGCTGCCGCTTTCTCCGGGCTCTGGGTCGCAGGCCGGGCGCTTTCTGCGTCCAGCAGCCCCTTTCCGCCCAGGCTTTTTGAAAAGGAAGGTGCACACCTGATCCAC... | GTCGCTCCCATATCCTCTGGTCCCACGGGTTTCGCCGAACGGGTGGATTTATAAACCACGCCGAGACTCTCGGGCTCATTTTCCTCTTCCTCTTCGCTGCTCAAGTCGCCGTAAGCCGCCTTCTGTTTACCACTGTCACGGGTCTTCTGTATCATTGGATTGTGGGTCACCCGCTTCTTTTCCGGTCGAACCACAGTGCAGCCTTCGTCGCTACTGCTGCCGCTTTCTCCGGGCTCTGGGTCGCAGGCCGGGCGCTTTCTGCGTCCAGCAGCCCCTTTCCGCCCAGGCTTTTTGAAAAGGAAGGTGCACACCTGATCCAC... |
Task1_train_31007 | Gene NKAP (NFKB activating protein) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ATAGTCCCACAATTTTCCATTTCTCCCCAACTTAAAAACAAACAGAAAGGTTTAAGTGTTTAAAATGAAATCTACTTAGTATATGAAAGACAGTTAAAAATATTTAATATCATTTTAGTTTCTCTTATGAAACAATTAAGCTAAAATACTGACTCATTATATTTTTCCTTATCAAAACTCTTGACCATAGTTGACTCCTATTCTTTTGGATGTTATCCTATCCTCAAGCTCATATCAGCTCAGATTGAAATAAAGTATTTACATGGGGATAAGAGTAGACTTCTTAAGACTTTATATTTCAAATAACTATTTTTAAGTAA... | ATAGTCCCACAATTTTCCATTTCTCCCCAACTTAAAAACAAACAGAAAGGTTTAAGTGTTTAAAATGAAATCTACTTAGTATATGAAAGACAGTTAAAAATATTTAATATCATTTTAGTTTCTCTTATGAAACAATTAAGCTAAAATACTGACTCATTATATTTTTCCTTATCAAAACTCTTGACCATAGTTGACTCCTATTCTTTTGGATGTTATCCTATCCTCAAGCTCATATCAGCTCAGATTGAAATAAAGTATTTACATGGGGATAAGAGTAGACTTCTTAAGACTTTATATTTCAAATAACTATTTTTAAGTAA... |
Task1_train_31008 | A genetic alteration is present in NKAP (NFKB activating protein) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | TAAATTTTAGAACCAGCTTAATAAGTCTCATAAACAACTGTGTTGTGATTTTGATTGGAACTATATTGAAGATATGGACTCTTAATGTCTTACATTTTTCCCCATAGAACCTTGGGCATCTTTTGTTAAGATTTATTCTTAAGTCTCTCATATTCTGACACTGTTATAAACGTTCAAGGTTCTAGGTTTCTGTTGTTAGTAAATAGAAATGCAGTTCATTTTTATTGGAACTGTATTGAATACACAATCTCTTAATAATGTTTTATAGTTTTCCTCACAGAGCCCTGGGCATCTTTTGTTAAGATTTATTCTGAAGTCCT... | TAAATTTTAGAACCAGCTTAATAAGTCTCATAAACAACTGTGTTGTGATTTTGATTGGAACTATATTGAAGATATGGACTCTTAATGTCTTACATTTTTCCCCATAGAACCTTGGGCATCTTTTGTTAAGATTTATTCTTAAGTCTCTCATATTCTGACACTGTTATAAACGTTCAAGGTTCTAGGTTTCTGTTGTTAGTAAATAGAAATGCAGTTCATTTTTATTGGAACTGTATTGAATACACAATCTCTTAATAATGTTTTATAGTTTTCCTCACAGAGCCCTGGGCATCTTTTGTTAAGATTTATTCTGAAGTCCT... |
Task1_train_31009 | A variant has been detected on Chromosome X in NKAP (NFKB activating protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | TTTGATTGGAACTATATTGAAGATATGGACTCTTAATGTCTTACATTTTTCCCCATAGAACCTTGGGCATCTTTTGTTAAGATTTATTCTTAAGTCTCTCATATTCTGACACTGTTATAAACGTTCAAGGTTCTAGGTTTCTGTTGTTAGTAAATAGAAATGCAGTTCATTTTTATTGGAACTGTATTGAATACACAATCTCTTAATAATGTTTTATAGTTTTCCTCACAGAGCCCTGGGCATCTTTTGTTAAGATTTATTCTGAAGTCCTTCATATTCTCTGATACTATTACAAATGTTTTCTTCTTATTTAGTTACAT... | TTTGATTGGAACTATATTGAAGATATGGACTCTTAATGTCTTACATTTTTCCCCATAGAACCTTGGGCATCTTTTGTTAAGATTTATTCTTAAGTCTCTCATATTCTGACACTGTTATAAACGTTCAAGGTTCTAGGTTTCTGTTGTTAGTAAATAGAAATGCAGTTCATTTTTATTGGAACTGTATTGAATACACAATCTCTTAATAATGTTTTATAGTTTTCCTCACAGAGCCCTGGGCATCTTTTGTTAAGATTTATTCTGAAGTCCTTCATATTCTCTGATACTATTACAAATGTTTTCTTCTTATTTAGTTACAT... |
Task1_train_31010 | Given this context: Chromosome X, gene LAMP2 (lysosomal associated membrane protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Danon disease | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... |
Task1_train_31011 | Gene LAMP2 (lysosomal associated membrane protein 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hypertrophic cardiomyopathy | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... |
Task1_train_31012 | Gene LAMP2 (lysosomal associated membrane protein 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Danon disease | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... |
Task1_train_31013 | The following genetic variant occurs in LAMP2 (lysosomal associated membrane protein 2) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Danon disease | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... |
Task1_train_31014 | This variant lies on Chromosome X and affects the gene LAMP2 (lysosomal associated membrane protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiovascular phenotype | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... | AAACCAAAGTTTCAAAGTAAGAGAAAGAGCACAGCTCATCTCTATTACAGGTGACTAGATAAACAGTCTTGAAGTGATGATACTAATACTGCAAACGATTTTAAACTGTAAACACAAATCTGGACTTAAAATTAGGGGAATAATGAAGGGGAGCCAGATAAAAAGTCCAAAAATAAAGCTACTAAAGGATCAAAATAATTGAAGTACATAAGCAAAACAGACAAAAGGGAAAATGAATTCTTGAAAATATTTTTAAAGTGTAACTAACGTCTTTAATCGCAAGAATGGTAGGGTGGAGAGCCCAATTTATTGTGGCCTAA... |
Task1_train_31015 | The gene CUL4B (cullin 4B), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GCTGGGCCGTTATAGGATCTCTTCTCCATTCTTTTCCCCAATACCACCTGCAGTCCCCACCTTTGAATACCCCTATGTGGCTTAAACACCTTGCAGCAACCCCCATTCCTCACCCCCCAGCCAGCCCAAGTCTCCAGTTTTTCACTTGCTCCACTGCCTGTCTGCAGGGAGTGACCTGGAGTAGGGAAGGAAAAAGAGGGGAAAAGGGCAAAGCAGATAAGCCCTATTCTGTAGCTACTATAGAATCCATAATCTTACTGACCCTGATTTTTTCTTAATTCTTTCACTTCCACTTCCCACCTTAGCAACACTGTGGGGTA... | GCTGGGCCGTTATAGGATCTCTTCTCCATTCTTTTCCCCAATACCACCTGCAGTCCCCACCTTTGAATACCCCTATGTGGCTTAAACACCTTGCAGCAACCCCCATTCCTCACCCCCCAGCCAGCCCAAGTCTCCAGTTTTTCACTTGCTCCACTGCCTGTCTGCAGGGAGTGACCTGGAGTAGGGAAGGAAAAAGAGGGGAAAAGGGCAAAGCAGATAAGCCCTATTCTGTAGCTACTATAGAATCCATAATCTTACTGACCCTGATTTTTTCTTAATTCTTTCACTTCCACTTCCCACCTTAGCAACACTGTGGGGTA... |
Task1_train_31016 | Here is a variant affecting CUL4B (cullin 4B) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked intellectual disability Cabezas type | AGAGAAGAATGCCATCAATTGTCTTATTCTGCACTTTCTGATCACTTATAATATGAGCCCTAAATAACTCCAGTCCCATGTCCCTAAAATAAAAAACACATATAACCTAAATTAATTGACAATACCACTTCTGAAGAGGTTTGCTTAACTTCTTACCACATGTTCCCATGCTAATTAGGGCTCCAGGGCTTTGAAGCAGCAATTGTCAAAAAATAAAATCCACACATTTAATTTTGAATAACATTATTAGATTAAAGAACACAGGAAACTCATTTTGCCTTTACTGAGAATTGAAGCTAAATTCCTATTTTCCTCCATAA... | AGAGAAGAATGCCATCAATTGTCTTATTCTGCACTTTCTGATCACTTATAATATGAGCCCTAAATAACTCCAGTCCCATGTCCCTAAAATAAAAAACACATATAACCTAAATTAATTGACAATACCACTTCTGAAGAGGTTTGCTTAACTTCTTACCACATGTTCCCATGCTAATTAGGGCTCCAGGGCTTTGAAGCAGCAATTGTCAAAAAATAAAATCCACACATTTAATTTTGAATAACATTATTAGATTAAAGAACACAGGAAACTCATTTTGCCTTTACTGAGAATTGAAGCTAAATTCCTATTTTCCTCCATAA... |
Task1_train_31017 | Given this context: Chromosome X, gene CUL4B, LOC113845788 (cullin 4B| H3K27ac hESC enhancers GRCh37_chrX:119693886-119694771 and GRCh37_chrX:119694772-119695656) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; CUL4B-related disorder | CTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAGTCAATGGCAAAGCTGGGATTCTAATTCAGGTCTGTTTGACCCCCACATTTATGCAGCATCTATAGAAATGGAAACATCTTAACTCAGGTTTTAAACTACATTTACGAGCAGAGTGAAATTTTTAAAGACTGAAAGAAATGACTCCAGAAACCATGTTGCATTTTCAGAATAGAAAGAAACATCTTACTCTAGGCTTTAAACTTCACTGACTAGCAATGAGTGTGGGGAAAAAAGTTTTAATTAGAATATCCAAATGCCTTAATAATATGCTTTTATTTTAGGA... | CTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAGTCAATGGCAAAGCTGGGATTCTAATTCAGGTCTGTTTGACCCCCACATTTATGCAGCATCTATAGAAATGGAAACATCTTAACTCAGGTTTTAAACTACATTTACGAGCAGAGTGAAATTTTTAAAGACTGAAAGAAATGACTCCAGAAACCATGTTGCATTTTCAGAATAGAAAGAAACATCTTACTCTAGGCTTTAAACTTCACTGACTAGCAATGAGTGTGGGGAAAAAAGTTTTAATTAGAATATCCAAATGCCTTAATAATATGCTTTTATTTTAGGA... |
Task1_train_31018 | A genomic change on Chromosome X affects CUL4B, LOC113845788 (cullin 4B| H3K27ac hESC enhancers GRCh37_chrX:119693886-119694771 and GRCh37_chrX:119694772-119695656). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked intellectual disability Cabezas type | CTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAGTCAATGGCAAAGCTGGGATTCTAATTCAGGTCTGTTTGACCCCCACATTTATGCAGCATCTATAGAAATGGAAACATCTTAACTCAGGTTTTAAACTACATTTACGAGCAGAGTGAAATTTTTAAAGACTGAAAGAAATGACTCCAGAAACCATGTTGCATTTTCAGAATAGAAAGAAACATCTTACTCTAGGCTTTAAACTTCACTGACTAGCAATGAGTGTGGGGAAAAAAGTTTTAATTAGAATATCCAAATGCCTTAATAATATGCTTTTATTTTAGGA... | CTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAGTCAATGGCAAAGCTGGGATTCTAATTCAGGTCTGTTTGACCCCCACATTTATGCAGCATCTATAGAAATGGAAACATCTTAACTCAGGTTTTAAACTACATTTACGAGCAGAGTGAAATTTTTAAAGACTGAAAGAAATGACTCCAGAAACCATGTTGCATTTTCAGAATAGAAAGAAACATCTTACTCTAGGCTTTAAACTTCACTGACTAGCAATGAGTGTGGGGAAAAAAGTTTTAATTAGAATATCCAAATGCCTTAATAATATGCTTTTATTTTAGGA... |
Task1_train_31019 | Located on Chromosome X, this mutation impacts C1GALT1C1 (C1GALT1 specific chaperone 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Polyagglutinable erythrocyte syndrome | TGAGACCACATATTAGGGGGCTTCATAAAGGGGTTTTGTTATTCTTCAAAACTAATAACGCTTCATCTTAACCAAAACCCTCAATGAGAATAATCAGAAATAAAGCAAAGTTTTACACACTACCCTGAGGATCAATAACTTCAAGCCCAAGGCCATCTTAAGGAAATTTTCTTTCTGGTTTGCTAAAGCTGTGGGAGACCATTACCATCATGAGGCCAGTTACAAGAAATATTGATCTCTAAAATGTCATGCTCTAACACTCTATGCGGACTCACAGCATGTGCTGGCCAGATTGCAGAACAAGTCAGCTCTAAGTATTT... | TGAGACCACATATTAGGGGGCTTCATAAAGGGGTTTTGTTATTCTTCAAAACTAATAACGCTTCATCTTAACCAAAACCCTCAATGAGAATAATCAGAAATAAAGCAAAGTTTTACACACTACCCTGAGGATCAATAACTTCAAGCCCAAGGCCATCTTAAGGAAATTTTCTTTCTGGTTTGCTAAAGCTGTGGGAGACCATTACCATCATGAGGCCAGTTACAAGAAATATTGATCTCTAAAATGTCATGCTCTAACACTCTATGCGGACTCACAGCATGTGCTGGCCAGATTGCAGAACAAGTCAGCTCTAAGTATTT... |
Task1_train_31020 | Assess the clinical impact of this variant on gene C1GALT1C1 (C1GALT1 specific chaperone 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Polyagglutinable erythrocyte syndrome | CCTGAGGATCAATAACTTCAAGCCCAAGGCCATCTTAAGGAAATTTTCTTTCTGGTTTGCTAAAGCTGTGGGAGACCATTACCATCATGAGGCCAGTTACAAGAAATATTGATCTCTAAAATGTCATGCTCTAACACTCTATGCGGACTCACAGCATGTGCTGGCCAGATTGCAGAACAAGTCAGCTCTAAGTATTTCACACATTTATCAGTACAGGAGCTATTGCATTTACCACTGGATTAAGTTTCTGAGTAGCCATTGAAATTTGGGAAAAGGTATGGTAATGCAAAGTAGATAGGTTAGGACCTCCACACTGAAAA... | CCTGAGGATCAATAACTTCAAGCCCAAGGCCATCTTAAGGAAATTTTCTTTCTGGTTTGCTAAAGCTGTGGGAGACCATTACCATCATGAGGCCAGTTACAAGAAATATTGATCTCTAAAATGTCATGCTCTAACACTCTATGCGGACTCACAGCATGTGCTGGCCAGATTGCAGAACAAGTCAGCTCTAAGTATTTCACACATTTATCAGTACAGGAGCTATTGCATTTACCACTGGATTAAGTTTCTGAGTAGCCATTGAAATTTGGGAAAAGGTATGGTAATGCAAAGTAGATAGGTTAGGACCTCCACACTGAAAA... |
Task1_train_31021 | A variant was discovered in gene C1GALT1C1 (C1GALT1 specific chaperone 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Atypical hemolytic-uremic syndrome | TAAGTATTTCACACATTTATCAGTACAGGAGCTATTGCATTTACCACTGGATTAAGTTTCTGAGTAGCCATTGAAATTTGGGAAAAGGTATGGTAATGCAAAGTAGATAGGTTAGGACCTCCACACTGAAAACAGATATGGTACAGCTGTGAACATGGGAAAATTCCCTGAACTTGTACAAGGAAACAAAATCCAGAACAGGCTGGGCGCAGGGACTCATGCCTGTAATCTCAGAACTTTGGGAGGCCGAGGCGGGTGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTA... | TAAGTATTTCACACATTTATCAGTACAGGAGCTATTGCATTTACCACTGGATTAAGTTTCTGAGTAGCCATTGAAATTTGGGAAAAGGTATGGTAATGCAAAGTAGATAGGTTAGGACCTCCACACTGAAAACAGATATGGTACAGCTGTGAACATGGGAAAATTCCCTGAACTTGTACAAGGAAACAAAATCCAGAACAGGCTGGGCGCAGGGACTCATGCCTGTAATCTCAGAACTTTGGGAGGCCGAGGCGGGTGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTA... |
Task1_train_31022 | With a mutation on Chromosome X in gene C1GALT1C1 (C1GALT1 specific chaperone 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Polyagglutinable erythrocyte syndrome | CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAAGGGAACTGCTTGAAACCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGTCTGGGCGACAGAGCAAAACTCTGTGTCAAAAAAACAAAACAAAACAAAACAAAATACAGAACAGATTCAACTCAGGTAAGTGAAACTGCCAGATGGCCAAAACAAGTTCTTCAAATTTCCACAGAACT... | CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAAGGGAACTGCTTGAAACCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGTCTGGGCGACAGAGCAAAACTCTGTGTCAAAAAAACAAAACAAAACAAAACAAAATACAGAACAGATTCAACTCAGGTAAGTGAAACTGCCAGATGGCCAAAACAAGTTCTTCAAATTTCCACAGAACT... |
Task1_train_31023 | A variant has been detected on Chromosome X in GRIA3 (glutamate ionotropic receptor AMPA type subunit 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Syndromic X-linked intellectual disability 94 | ATTTGATCAGTAGGCAGTTGGCTTCAATAAACCCATGCTTTCTGCAACTTCCACTAGGATGTAAAGGATGTAGGATGCCCTCCATGCAGGTAAGTATTTTTGTCTGTTTTGTCTGTCTTGTTCACTGCTTCATTCCTAGCACCTAGAATAGTGCTTGGCACAGAATAAAGACTCAAATTTGCATTGGAATGAACCTAAGAGGGGTTGGCTAAGGTTGATAATTGCATATAAAAGTAGTGTATAGTAGAAACCTGCAAGTATCTATGGAGTTAGAACATTATGTTCATTAAGCAACTGGGTTCTGGAATCTGAAGACCAGG... | ATTTGATCAGTAGGCAGTTGGCTTCAATAAACCCATGCTTTCTGCAACTTCCACTAGGATGTAAAGGATGTAGGATGCCCTCCATGCAGGTAAGTATTTTTGTCTGTTTTGTCTGTCTTGTTCACTGCTTCATTCCTAGCACCTAGAATAGTGCTTGGCACAGAATAAAGACTCAAATTTGCATTGGAATGAACCTAAGAGGGGTTGGCTAAGGTTGATAATTGCATATAAAAGTAGTGTATAGTAGAAACCTGCAAGTATCTATGGAGTTAGAACATTATGTTCATTAAGCAACTGGGTTCTGGAATCTGAAGACCAGG... |
Task1_train_31024 | A genetic alteration is present in GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability | ATTCAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTT... | ATTCAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTT... |
Task1_train_31025 | Gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Syndromic X-linked intellectual disability 94 | ATTCAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTT... | ATTCAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTT... |
Task1_train_31026 | Located on Chromosome X, this mutation impacts GRIA3 (glutamate ionotropic receptor AMPA type subunit 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Syndromic X-linked intellectual disability 94 | CAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTAT... | CAGAGTGTAGCATCTAAAACAACTGAGTTTTCCAGAGGCCAGAAAAAGGTTACCTTGGGACACAGGAATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTAT... |
Task1_train_31027 | This genomic variant is located on Chromosome X, within the GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Syndromic X-linked intellectual disability 94 | AATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGA... | AATTTAAATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGA... |
Task1_train_31028 | This is a variant in GRIA3 (glutamate ionotropic receptor AMPA type subunit 3), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Syndromic X-linked intellectual disability 94 | ATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTT... | ATTTGCTTTAAAGTGGTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTT... |
Task1_train_31029 | Here is a variant affecting GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; GRIA3-related complex neurodevelopmental disorder | GTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTTTCCTGAGTACAAGCC... | GTGAAATGCTGGTACAGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTTTCCTGAGTACAAGCC... |
Task1_train_31030 | The gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTTTCCTGAGTACAAGCCATTACCCATCACTGA... | AGACAGAGAAGAGCTTGATTTGCCGGCTCTCAGCCCAGAACTACCCTCTTCCCACAGAGCCTGGAGATATGCCAGGCTCCTACGCCTATTCTTGACTTTATGACAGAGTGGGTTCTCTTCCTGTGAGTTTTTCTGGGCATGGGAGAACATAGCGTAACTAGGATGGAGCTCTGCCACACAGCAGAATTATCCTAAGGATGATGTGGCAATGTTTTATAAAACCTAGGGAGCAGATTTTCATTTCTGCAGACAGAGCCAGCCTTCAGCAACACTGTGAAGGAGATGAAGTTTCCTGAGTACAAGCCATTACCCATCACTGA... |
Task1_train_31031 | The gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Syndromic X-linked intellectual disability 94 | CAAGTATCACCTTAGAATTTTTTTCTAGGATTTTCATTCCTAAGGACCTAGCTCCCAAGTCAATTGGAAGTTTTTGAGTCATTGAGTCTACAATTCTTTTATAGTCTCCAGAATGACTAACATAGGGCTAGAGGCACAGTAAGCATTTAATATATGTTCTAGGGACCACCTGAATTGAAATGAAATTTAATGGGATTATATGCAAAATTCAAAAAGGTAAAGATGAAGGAGACTTGACTTGGCAGAAAGAACTAAGTTTTGGTTTGACCTCAACCTGAGTTGATGGAAAGACTCTATTGACTCTATTATATTCTTCCAGT... | CAAGTATCACCTTAGAATTTTTTTCTAGGATTTTCATTCCTAAGGACCTAGCTCCCAAGTCAATTGGAAGTTTTTGAGTCATTGAGTCTACAATTCTTTTATAGTCTCCAGAATGACTAACATAGGGCTAGAGGCACAGTAAGCATTTAATATATGTTCTAGGGACCACCTGAATTGAAATGAAATTTAATGGGATTATATGCAAAATTCAAAAAGGTAAAGATGAAGGAGACTTGACTTGGCAGAAAGAACTAAGTTTTGGTTTGACCTCAACCTGAGTTGATGGAAAGACTCTATTGACTCTATTATATTCTTCCAGT... |
Task1_train_31032 | This variant lies on Chromosome X and affects the gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTAAAATTTAGTCGCATGCTCCTTAAAGGTATACATCGTTAGGATAACATCACATTGATAAGCATGAAACACTCTTCCCCGCCTCCTTCCTGCCCCCCTTCGCTCCCCTAAGAAAGTTCTTTTTTAGTTTCAATTTTTGCCTTTCCTTTTTTTGGACTAATATCGTGGTATCAGTTAATTCATTTCATGAAATGCCACTCATTTTCCCCGTGCAATGAACCATTTTGCTACTGGTTTTCTACATCCCACATCAGGGAATTCTATAACTCTTGTGAAACTTAAATAATACATGGAACTTGAAACTGTTCTTCTTGTCACAG... | TTAAAATTTAGTCGCATGCTCCTTAAAGGTATACATCGTTAGGATAACATCACATTGATAAGCATGAAACACTCTTCCCCGCCTCCTTCCTGCCCCCCTTCGCTCCCCTAAGAAAGTTCTTTTTTAGTTTCAATTTTTGCCTTTCCTTTTTTTGGACTAATATCGTGGTATCAGTTAATTCATTTCATGAAATGCCACTCATTTTCCCCGTGCAATGAACCATTTTGCTACTGGTTTTCTACATCCCACATCAGGGAATTCTATAACTCTTGTGAAACTTAAATAATACATGGAACTTGAAACTGTTCTTCTTGTCACAG... |
Task1_train_31033 | Consider a variant on Chromosome X in gene THOC2 (THO complex subunit 2). Determine its clinical classification and disease relevance. | Pathogenic; X-linked intellectual disability-short stature-overweight syndrome | GGTACCAAGGAAGTATTTTTGTTAGCACAATCAAGATATTCCTGATGTGAGTATATTCGCCTGTTTCAAGGCAATGTACCGATGCCTACAACAAACATTTTCAGATCCATTATTATAAAAGCACAAGTATACAGAGAAAAATTTGCCTTTGAAAAATCCAATTTTTTTTTTACCTTGGTTAGTTTGTAATGCCATTTATGTACAACATGTCGAAAATTTTCATAGTCTAATTGATCAGCCTTATTTCCACCATCAAATCCAGTTGCCCGTAATATGGTAAGGAATCCTGGATAGTTTCCACATTCCTAAGGAAACAATGT... | GGTACCAAGGAAGTATTTTTGTTAGCACAATCAAGATATTCCTGATGTGAGTATATTCGCCTGTTTCAAGGCAATGTACCGATGCCTACAACAAACATTTTCAGATCCATTATTATAAAAGCACAAGTATACAGAGAAAAATTTGCCTTTGAAAAATCCAATTTTTTTTTTACCTTGGTTAGTTTGTAATGCCATTTATGTACAACATGTCGAAAATTTTCATAGTCTAATTGATCAGCCTTATTTCCACCATCAAATCCAGTTGCCCGTAATATGGTAAGGAATCCTGGATAGTTTCCACATTCCTAAGGAAACAATGT... |
Task1_train_31034 | A genomic change on Chromosome X affects THOC2 (THO complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked intellectual disability-short stature-overweight syndrome | AATAGCAGTTGGGAAAACAGAGAGTGTTTTTTAATTTAGAGGACAGGTCTTATTGAAGGTAACTAATATGAATCTAGATGAGCAGAATGACTTCTGCTAAGGTTCTAACAAAACGGGATAAAATAGGGCTGACATTATCTGCATAAAAGACAGCCTAATTACCTGTTCTGGGCAAGATCTAGAATATGAACTAGGTTAAAAGCCTATCTTTCAGACCTGTGTCTCAAGGTGGACCACAACCTCAACAATTAAAACTAAAAATTAGTTTATAGGTATGAGAGGGTTACATGATAGCTCCAATCTCCCCAGTCCTCTGGGTC... | AATAGCAGTTGGGAAAACAGAGAGTGTTTTTTAATTTAGAGGACAGGTCTTATTGAAGGTAACTAATATGAATCTAGATGAGCAGAATGACTTCTGCTAAGGTTCTAACAAAACGGGATAAAATAGGGCTGACATTATCTGCATAAAAGACAGCCTAATTACCTGTTCTGGGCAAGATCTAGAATATGAACTAGGTTAAAAGCCTATCTTTCAGACCTGTGTCTCAAGGTGGACCACAACCTCAACAATTAAAACTAAAAATTAGTTTATAGGTATGAGAGGGTTACATGATAGCTCCAATCTCCCCAGTCCTCTGGGTC... |
Task1_train_31035 | A variant was discovered on Chromosome X, affecting THOC2 (THO complex subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked intellectual disability-short stature-overweight syndrome | AGGTAATATTTTACACAAGTAAGAGAGAAAAAGTAGCTTGAATGACCTGCTCCATTTTCTGAGCTGGAAAAGTTCAGCCAACCACAGACAACCAGGTGTTCCTGTTTGCTAGGATTCCATATTGCTGATTAGTGTGTTCACTTAGCACAGGGCAGGTCAGAATTCCTAAGATGAAGAAATTCTCCCACCTCTGTCTGTCAAGAAATCAGGTACCCTCTTGCACAGCTGAGACTGATCTACCATGGGGTGTGACAACAGTAAGACGTTACACAAAGACGGCAAACAATTCTCTGGATTGAGAGGATCTAAAGGGGAAGAAG... | AGGTAATATTTTACACAAGTAAGAGAGAAAAAGTAGCTTGAATGACCTGCTCCATTTTCTGAGCTGGAAAAGTTCAGCCAACCACAGACAACCAGGTGTTCCTGTTTGCTAGGATTCCATATTGCTGATTAGTGTGTTCACTTAGCACAGGGCAGGTCAGAATTCCTAAGATGAAGAAATTCTCCCACCTCTGTCTGTCAAGAAATCAGGTACCCTCTTGCACAGCTGAGACTGATCTACCATGGGGTGTGACAACAGTAAGACGTTACACAAAGACGGCAAACAATTCTCTGGATTGAGAGGATCTAAAGGGGAAGAAG... |
Task1_train_31036 | The following genetic variant occurs in THOC2 (THO complex subunit 2) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; X-linked intellectual disability-short stature-overweight syndrome | ATGTGCAGGTTGGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTAGTCATTTACATTAGGTATATTTCCTGATGCTATCCCTCCCCTCTCCCCACACCCCACAACAGGCCCCGGTGTGTGAAGTTCCCCTTCCTGTGTCCAAGTGTTCTCCTTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGAGTTTGCTGAGAGTGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGACTGCATAGTATTCCATGGTATAT... | ATGTGCAGGTTGGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTAGTCATTTACATTAGGTATATTTCCTGATGCTATCCCTCCCCTCTCCCCACACCCCACAACAGGCCCCGGTGTGTGAAGTTCCCCTTCCTGTGTCCAAGTGTTCTCCTTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGAGTTTGCTGAGAGTGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGACTGCATAGTATTCCATGGTATAT... |
Task1_train_31037 | The gene THOC2 (THO complex subunit 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked intellectual disability-short stature-overweight syndrome | ATGGGAATGGGCAACAAGGGATGGACCTAAGATGCACTGGAAGATGAAACAGAAAAATATGGATATAACAACACTGATTCAAGTCAACTGACATTTCTCAATCTGGATTCCACAACCTAGGGTATGTAGAATGTGGTCGTAGGGAAAGTGAGCCATGTAATAAAAGAAGGTCACTTTAGGACACCATACCCAGAGTTCTCACCTGCTCAGCAGGTGCCCCACTGTGGAGTCACAGGGGTCACTCTCTAAGAAGCCTGCATGGTCCACGGCCCATGAAGTGACACTGACGGCAGCAACCAGCAGCTACACAAAAGTCACAA... | ATGGGAATGGGCAACAAGGGATGGACCTAAGATGCACTGGAAGATGAAACAGAAAAATATGGATATAACAACACTGATTCAAGTCAACTGACATTTCTCAATCTGGATTCCACAACCTAGGGTATGTAGAATGTGGTCGTAGGGAAAGTGAGCCATGTAATAAAAGAAGGTCACTTTAGGACACCATACCCAGAGTTCTCACCTGCTCAGCAGGTGCCCCACTGTGGAGTCACAGGGGTCACTCTCTAAGAAGCCTGCATGGTCCACGGCCCATGAAGTGACACTGACGGCAGCAACCAGCAGCTACACAAAAGTCACAA... |
Task1_train_31038 | Chromosome X houses a mutation in gene XIAP (X-linked inhibitor of apoptosis). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; X-linked lymphoproliferative disease due to XIAP deficiency | TCTTCTCAAGAAATCAATTAATGGCAGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAGGCGGAGGTCGCATGAACCAGTATCACACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAATC... | TCTTCTCAAGAAATCAATTAATGGCAGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAGGCGGAGGTCGCATGAACCAGTATCACACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAATC... |
Task1_train_31039 | A variant on Chromosome X in gene XIAP (X-linked inhibitor of apoptosis) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; X-linked lymphoproliferative disease due to XIAP deficiency | GCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAGGCGGAGGTCGCATGAACCAGTATCACACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAATCAATTAATGCACGCATAATATAGAGACAGAGTCATTGTTACCA... | GCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAGGCGGAGGTCGCATGAACCAGTATCACACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAATCAATTAATGCACGCATAATATAGAGACAGAGTCATTGTTACCA... |
Task1_train_31040 | This sequence change occurs on Chromosome X, altering STAG2 (STAG2 cohesin complex component). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Mullegama-Klein-Martinez syndrome | TTAAATTGGTTATTTCTGAAATAGTTAATAACTTTAAAACATATCCAGACTCAAGAATTGACTAAGAAAAATCCTGATCATATTTCACCCATGTCTAAATTCCTCATATTTTTCATATAATTTGAAATAAAGTGTTGATACTTTTTCCCTTTAATTTATGTATATGCTATATAGTAAGTGATATGTAGTAGCAAACTACATTACAGATTTCTTTACAGTGTTTTTTTTGGAGGCAGAATCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACTATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGCTCCTGC... | TTAAATTGGTTATTTCTGAAATAGTTAATAACTTTAAAACATATCCAGACTCAAGAATTGACTAAGAAAAATCCTGATCATATTTCACCCATGTCTAAATTCCTCATATTTTTCATATAATTTGAAATAAAGTGTTGATACTTTTTCCCTTTAATTTATGTATATGCTATATAGTAAGTGATATGTAGTAGCAAACTACATTACAGATTTCTTTACAGTGTTTTTTTTGGAGGCAGAATCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACTATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGCTCCTGC... |
Task1_train_31041 | This mutation occurs in STAG2 (STAG2 cohesin complex component) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mullegama-Klein-Martinez syndrome | AACTTTTGGACTTGATCAGTTGAAAACAAGAGAAGCCATTGCCATGCTACACAAGTAATCTCCAGATATTTTATTCAGCTCTCATATTTTTTAGTCATGAAACTTTATTTTTAAATCTAGCCCTTTCATTTGGAATAACTAAATTAAATTTATGCTTTATTATTAGCTTATAAATCTCTACCCTATCTCCTTTCTTAATTTTAAAGAACCAGTTACAGTGCTATCTCAATTAACAAATGAGTTGGGCCAGGCTTGGTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGTAG... | AACTTTTGGACTTGATCAGTTGAAAACAAGAGAAGCCATTGCCATGCTACACAAGTAATCTCCAGATATTTTATTCAGCTCTCATATTTTTTAGTCATGAAACTTTATTTTTAAATCTAGCCCTTTCATTTGGAATAACTAAATTAAATTTATGCTTTATTATTAGCTTATAAATCTCTACCCTATCTCCTTTCTTAATTTTAAAGAACCAGTTACAGTGCTATCTCAATTAACAAATGAGTTGGGCCAGGCTTGGTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGTAG... |
Task1_train_31042 | This alteration occurs within gene SH2D1A (SH2 domain containing 1A) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | ACAGGTGTGCTATTTTAGCAACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGA... | ACAGGTGTGCTATTTTAGCAACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGA... |
Task1_train_31043 | The gene SH2D1A (SH2 domain containing 1A), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | AGGTGTGCTATTTTAGCAACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGC... | AGGTGTGCTATTTTAGCAACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGC... |
Task1_train_31044 | An alteration has been detected in SH2D1A (SH2 domain containing 1A) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; X-linked lymphoproliferative syndrome | AACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTT... | AACATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTT... |
Task1_train_31045 | A sequence alteration has been identified in SH2D1A (SH2 domain containing 1A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | ATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTTTCA... | ATGGAACAAAACAGAGAAAGAAAAAAAGAGTGCATGGTACGCTTGTGCTGTCAGATCCAGGTTGCTCTGTTCCTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTTTCA... |
Task1_train_31046 | The following genetic variant occurs in SH2D1A (SH2 domain containing 1A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | CTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTTTCAAATCCTTAATGTTGGAGTATGCATTCATATATCAGATTAATTTCTTCCTTGATCCAAAGCATGAAAAGGGGT... | CTAAGTTTATGGATGATTTGTTCAGAGTTGTTAAGAGACAAAAAAAGGTTAGGTTTTGTTTTCACTTATGTGACACTGAATGTTCTCACAGTTCACCTCACAGGTCAGCTGTTGCTCATATGGACTGATATAAAGGGATCCCTTTCCCTGTCTCCTTTCTATTTGAAATTCCACCATTTTGATTAATTCCTCTGGGCTAACCATTTGCCTGCTCAATATATGGAGAGCCCAAGGTGGACAACCTTTCAAATCCTTAATGTTGGAGTATGCATTCATATATCAGATTAATTTCTTCCTTGATCCAAAGCATGAAAAGGGGT... |
Task1_train_31047 | This variant affects gene SH2D1A (SH2 domain containing 1A) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | AATACAAAAATTAGCCAGCCATGGTGGCATGCACCTGTAGCCTCAGCTACTCGGGAGGCTGAAACAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAAAAATGTATAGCACAGACAATTACATACAGTACACAATACTTGATAATGATAACAAATTACTGTGTTACTGGTTTATGTATTTACTGTACTATACATTTTATCATTATTTTAAAATCT... | AATACAAAAATTAGCCAGCCATGGTGGCATGCACCTGTAGCCTCAGCTACTCGGGAGGCTGAAACAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAAAAATGTATAGCACAGACAATTACATACAGTACACAATACTTGATAATGATAACAAATTACTGTGTTACTGGTTTATGTATTTACTGTACTATACATTTTATCATTATTTTAAAATCT... |
Task1_train_31048 | The variant affects gene SH2D1A (SH2 domain containing 1A), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | CAAAAATTAGCCAGCCATGGTGGCATGCACCTGTAGCCTCAGCTACTCGGGAGGCTGAAACAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAAAAATGTATAGCACAGACAATTACATACAGTACACAATACTTGATAATGATAACAAATTACTGTGTTACTGGTTTATGTATTTACTGTACTATACATTTTATCATTATTTTAAAATCTACTC... | CAAAAATTAGCCAGCCATGGTGGCATGCACCTGTAGCCTCAGCTACTCGGGAGGCTGAAACAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAAAAATGTATAGCACAGACAATTACATACAGTACACAATACTTGATAATGATAACAAATTACTGTGTTACTGGTTTATGTATTTACTGTACTATACATTTTATCATTATTTTAAAATCTACTC... |
Task1_train_31049 | A variant was discovered on Chromosome X, affecting SH2D1A (SH2 domain containing 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | TCACTCTGTCGCTCAGGCTGGAGTGGTGGAATGGCCCGATCTCGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGAGTCCTGTGCCTCAGCTTCCCAAGTAGCCGGGATTGCCACCACACCTGGCTAATTTTCATATTTTTAGTAAAGCCAGGCTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGGTCCGCCGGTCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGCTTCTGTTGATAAATGACTTTACAAGCCACAAGAAGCTAAAAAGATGTGTGGT... | TCACTCTGTCGCTCAGGCTGGAGTGGTGGAATGGCCCGATCTCGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGAGTCCTGTGCCTCAGCTTCCCAAGTAGCCGGGATTGCCACCACACCTGGCTAATTTTCATATTTTTAGTAAAGCCAGGCTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGGTCCGCCGGTCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGCTTCTGTTGATAAATGACTTTACAAGCCACAAGAAGCTAAAAAGATGTGTGGT... |
Task1_train_31050 | This is a variant in SH2D1A (SH2 domain containing 1A), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; X-linked lymphoproliferative disease due to SH2D1A deficiency | GTAACCTCTGCCTCCCAGGTTCAAGTGAGTCCTGTGCCTCAGCTTCCCAAGTAGCCGGGATTGCCACCACACCTGGCTAATTTTCATATTTTTAGTAAAGCCAGGCTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGGTCCGCCGGTCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGCTTCTGTTGATAAATGACTTTACAAGCCACAAGAAGCTAAAAAGATGTGTGGTTTGAAATCTTTCCACACTTTAGGTGTGTATAGTTTTTCTTCTGTTTGATGA... | GTAACCTCTGCCTCCCAGGTTCAAGTGAGTCCTGTGCCTCAGCTTCCCAAGTAGCCGGGATTGCCACCACACCTGGCTAATTTTCATATTTTTAGTAAAGCCAGGCTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGGTCCGCCGGTCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCTATGCTTCTGTTGATAAATGACTTTACAAGCCACAAGAAGCTAAAAAGATGTGTGGTTTGAAATCTTTCCACACTTTAGGTGTGTATAGTTTTTCTTCTGTTTGATGA... |
Task1_train_31051 | Gene OCRL (OCRL inositol polyphosphate-5-phosphatase) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dent disease type 2 | AGGCTTCACTAGAGAGCCCTGGACCTACTTTTCTTAGTGGGTCCTGCCTCGGAGAGCTGTCACTCAGACCATGCAGACTTCAGTGGAGAACCTGCAGGACTTCAGGACTCTGAGAGGCAGAAAACGTTCAGATTCTCTTCCCCTAAAGACCTGGCTAGCAGCCAGGCAAAATTTTGAAGCTTGTCCAGCAAATAAACTGCATGCTTCTCAGTCCATTAACTCCTTGGCTTCTAAATCCCATACGTAATATTTCCCAGTTTCATTCTTCATGTACAGAGTCCTCTTCTCCTACCTATTTTGTAATCCATTGTCTCTCTCAG... | AGGCTTCACTAGAGAGCCCTGGACCTACTTTTCTTAGTGGGTCCTGCCTCGGAGAGCTGTCACTCAGACCATGCAGACTTCAGTGGAGAACCTGCAGGACTTCAGGACTCTGAGAGGCAGAAAACGTTCAGATTCTCTTCCCCTAAAGACCTGGCTAGCAGCCAGGCAAAATTTTGAAGCTTGTCCAGCAAATAAACTGCATGCTTCTCAGTCCATTAACTCCTTGGCTTCTAAATCCCATACGTAATATTTCCCAGTTTCATTCTTCATGTACAGAGTCCTCTTCTCCTACCTATTTTGTAATCCATTGTCTCTCTCAG... |
Task1_train_31052 | A variant found in Chromosome X affects OCRL (OCRL inositol polyphosphate-5-phosphatase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Dent disease type 2 | CTTATTTGATGCTTCTTTCTATCTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAG... | CTTATTTGATGCTTCTTTCTATCTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAG... |
Task1_train_31053 | Chromosome X houses a mutation in gene OCRL (OCRL inositol polyphosphate-5-phosphatase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lowe syndrome | TTTCTATCTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAG... | TTTCTATCTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAG... |
Task1_train_31054 | This is a variant in OCRL (OCRL inositol polyphosphate-5-phosphatase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Lowe syndrome | CTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTT... | CTGTAGCTAAATATTCAGCGCACACAGAAAAAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTT... |
Task1_train_31055 | Located on Chromosome X, this mutation impacts OCRL (OCRL inositol polyphosphate-5-phosphatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lowe syndrome | CATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAG... | CATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAG... |
Task1_train_31056 | This sequence variant lies in OCRL (OCRL inositol polyphosphate-5-phosphatase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lowe syndrome | CCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAAC... | CCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAAC... |
Task1_train_31057 | An alteration has been detected in OCRL (OCRL inositol polyphosphate-5-phosphatase) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACT... | CACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACT... |
Task1_train_31058 | Located on Chromosome X, this mutation impacts OCRL (OCRL inositol polyphosphate-5-phosphatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lowe syndrome | TTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGC... | TTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGC... |
Task1_train_31059 | This alteration occurs within gene OCRL (OCRL inositol polyphosphate-5-phosphatase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Lowe syndrome | TATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGCT... | TATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGCT... |
Task1_train_31060 | A genomic change on Chromosome X affects OCRL (OCRL inositol polyphosphate-5-phosphatase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dent disease type 2 | GACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGCTTAAATTTTTGCCTTCCTGATT... | GACCGGTGGGATTCCAGGTAAAGTAATAAGAACCTTCTCACAGAGAAGGTTAAGGCTTGATCTTATTTCTGACCCTCCATATTGGTAAGGGGCTAGGAATTTTTTAGGCCATGCCATAAGCAGATATATAAACCTAATGGCTCAGTGCCTCAGTGCTATTATAGAACAATAAGAGTGTTTCATTTATCTATACTCAAAGGTGAGCCTATCTTAGGGAAGTTATTACTTATATGTCAAGATTGTTGAAGTTTTATGGGCTACCTACAGTGCCTTATTTCTCTCACCTCAGCAAACTTGCTTAAATTTTTGCCTTCCTGATT... |
Task1_train_31061 | Located on Chromosome X, this mutation impacts OCRL (OCRL inositol polyphosphate-5-phosphatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lowe syndrome | AGTTAAAATCTGTTAGTTATGTTAATTTTGGCATTGGTTTGTATGAAGTTTTAATATTTAAAAAAACACAGCTATATCAGGAAGCTGAAAGTGCTGTGTCAGGTGGAAAATTTTTTTATCAGTGGAGATGTGTTTATACGTTGTCATGGTTTTACTCTAGTCTAGGACATTTTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACC... | AGTTAAAATCTGTTAGTTATGTTAATTTTGGCATTGGTTTGTATGAAGTTTTAATATTTAAAAAAACACAGCTATATCAGGAAGCTGAAAGTGCTGTGTCAGGTGGAAAATTTTTTTATCAGTGGAGATGTGTTTATACGTTGTCATGGTTTTACTCTAGTCTAGGACATTTTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACC... |
Task1_train_31062 | Assess the clinical impact of this variant on gene OCRL (OCRL inositol polyphosphate-5-phosphatase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lowe syndrome | TATATCAGGAAGCTGAAAGTGCTGTGTCAGGTGGAAAATTTTTTTATCAGTGGAGATGTGTTTATACGTTGTCATGGTTTTACTCTAGTCTAGGACATTTTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACCTCACCAAGTTATGATTGTTAGAAACAGTAATTGCTGTGTTTTGACACTGTCATTTTGTACAGTGCAAGCAAT... | TATATCAGGAAGCTGAAAGTGCTGTGTCAGGTGGAAAATTTTTTTATCAGTGGAGATGTGTTTATACGTTGTCATGGTTTTACTCTAGTCTAGGACATTTTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACCTCACCAAGTTATGATTGTTAGAAACAGTAATTGCTGTGTTTTGACACTGTCATTTTGTACAGTGCAAGCAAT... |
Task1_train_31063 | This genomic variant is located on Chromosome X, within the OCRL (OCRL inositol polyphosphate-5-phosphatase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Dent disease type 2 | TTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACCTCACCAAGTTATGATTGTTAGAAACAGTAATTGCTGTGTTTTGACACTGTCATTTTGTACAGTGCAAGCAATCATTTTTACCACAATTATCACATTTTTTCCACTACCAAATAACTTAACAATGAAGCAAGAAAATATTCTTCCCAAATATTTATTATTACCAAGCTTCTT... | TTGTTTCAGCCATTTTCTAAAATGGCTGTAGGTTCCATTTATTAATATATCTCTGCTATTATGTAATCTGAGCAGTGATATTATACTTCTTGGTATTGTACATAGAATCTAATAGAGTTAAAAGCTTTTTAATAATATTTGCTGCCACCTCACCAAGTTATGATTGTTAGAAACAGTAATTGCTGTGTTTTGACACTGTCATTTTGTACAGTGCAAGCAATCATTTTTACCACAATTATCACATTTTTTCCACTACCAAATAACTTAACAATGAAGCAAGAAAATATTCTTCCCAAATATTTATTATTACCAAGCTTCTT... |
Task1_train_31064 | A genetic alteration is present in OCRL (OCRL inositol polyphosphate-5-phosphatase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Lowe syndrome | TCTTAAGAGATGAAGATCACATTTTACCTGCATGACCAGAATTTGAAGGACTTTAAGTTATACACCAAAGTCTTTATTCTGAGACCCCTTTGATTCTCATACTTTTCCATCTATTAGGAGAAATCCCTTCTGCAAATGGTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTTCTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGTAAGTGAGAGTAGACCTTCCCTACAACTTTGGAAGGTGTGTAACTACTATAGGAAATCACAACACCTCACGTCAGCATAGCGCTT... | TCTTAAGAGATGAAGATCACATTTTACCTGCATGACCAGAATTTGAAGGACTTTAAGTTATACACCAAAGTCTTTATTCTGAGACCCCTTTGATTCTCATACTTTTCCATCTATTAGGAGAAATCCCTTCTGCAAATGGTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTTCTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGTAAGTGAGAGTAGACCTTCCCTACAACTTTGGAAGGTGTGTAACTACTATAGGAAATCACAACACCTCACGTCAGCATAGCGCTT... |
Task1_train_31065 | This sequence variant lies in OCRL (OCRL inositol polyphosphate-5-phosphatase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lowe syndrome | CTGGTTTCCTGCTCTAGCCATCTAGTCCCCTGCCTTATTAGGTACAGGCTAAAACCTTTGAAAAGATCATTTTCCTATTTGAAATAACATTTCACATGGATTAGAGAAATGCTAAAGGAAAAATGTGTTATTTTCACACCTCCATTTGTAATTATTAACACACATACCACCCTTCCCTTTTGCTTCCTGCTGCTCTTCTGATCCTTGGGTAATCATCATAACCTCAGGAGTGATTATCTTGCCTGTCCCTTCATTCTGACTTCTTTGGTAGGAGGACCTGTTCCAGACCCCTGGAATGCAGGAAGAGCTCCAGCAGATCA... | CTGGTTTCCTGCTCTAGCCATCTAGTCCCCTGCCTTATTAGGTACAGGCTAAAACCTTTGAAAAGATCATTTTCCTATTTGAAATAACATTTCACATGGATTAGAGAAATGCTAAAGGAAAAATGTGTTATTTTCACACCTCCATTTGTAATTATTAACACACATACCACCCTTCCCTTTTGCTTCCTGCTGCTCTTCTGATCCTTGGGTAATCATCATAACCTCAGGAGTGATTATCTTGCCTGTCCCTTCATTCTGACTTCTTTGGTAGGAGGACCTGTTCCAGACCCCTGGAATGCAGGAAGAGCTCCAGCAGATCA... |
Task1_train_31066 | This variant lies on Chromosome X and affects the gene SASH3 (SAM and SH3 domain containing 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Immunodeficiency 102 | TTCTTGCCCCTCAAGTCCACTCCAAGTTTCCTGCTTTCTCTGCCTCCACAGACACTTCCCTGCCCCCGACTGAAAATCATTCAAAATGCCCACTACTCTGTACTTCCCAGGGAGAAGGAGCCCAACTGAGTTTCTATGTGACATTGTAACTACACATTGAGTTAAGCAGGGAAAGTCAAATATGAATGCAGGGCATAGCTTCCTGGGTGGAGGGAGCGTTGGAGTGGGTATCAGGGAACATGGAGTCTAATGGACTGACTCAGTGCTGCCAGTTATAAAATGAGAAGCCTTGAGCAGTTCACTTGGTCTGTGTGACCTCA... | TTCTTGCCCCTCAAGTCCACTCCAAGTTTCCTGCTTTCTCTGCCTCCACAGACACTTCCCTGCCCCCGACTGAAAATCATTCAAAATGCCCACTACTCTGTACTTCCCAGGGAGAAGGAGCCCAACTGAGTTTCTATGTGACATTGTAACTACACATTGAGTTAAGCAGGGAAAGTCAAATATGAATGCAGGGCATAGCTTCCTGGGTGGAGGGAGCGTTGGAGTGGGTATCAGGGAACATGGAGTCTAATGGACTGACTCAGTGCTGCCAGTTATAAAATGAGAAGCCTTGAGCAGTTCACTTGGTCTGTGTGACCTCA... |
Task1_train_31067 | A variant found in Chromosome X affects ZDHHC9 (zDHHC palmitoyltransferase 9). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Syndromic X-linked intellectual disability Raymond type | TCTCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACAAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAATAAATAAATAAAATGGGCTTTGACAATAGATGCTGATGAGGCTGTGGAGAAATAGGAACACT... | TCTCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACAAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAATAAATAAATAAAATGGGCTTTGACAATAGATGCTGATGAGGCTGTGGAGAAATAGGAACACT... |
Task1_train_31068 | A variant found in Chromosome X affects ELF4 (E74 like ETS transcription factor 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | CCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGAGAGGCGGAAGTTGCAGTGAGCAGACATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAACTGAACCCCAACATGATGTACTATGTGAAGACTCATGCTGACCTGGGTGCCCTTACCTCACAGCTTTGGTGAGCTTGACCTGGCCCTCTGCTGGAGAGACGAGCATGGTGGAGGTAGTGGGGATC... | CCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGAGAGGCGGAAGTTGCAGTGAGCAGACATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAACTGAACCCCAACATGATGTACTATGTGAAGACTCATGCTGACCTGGGTGCCCTTACCTCACAGCTTTGGTGAGCTTGACCTGGCCCTCTGCTGGAGAGACGAGCATGGTGGAGGTAGTGGGGATC... |
Task1_train_31069 | Given a variant located on Chromosome X and affecting ELF4 (E74 like ETS transcription factor 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | GCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGAGAGGCGGAAGTTGCAGTGAGCAGACATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAACTGAACCCCAACATGATGTACTATGTGAAGACTCATGCTGACCTGGGTGCCCTTACCTCACAGCTTTGGTGAGCTTGACCTGGCCCTCTGCTGGAGAGACGAGCATGGTGGAGGTAGTGGGGATCTCCTCGTCTAGCGACGGTCCCAATTCCAGACTCGCAGATGGCTGGAGACCGACATGCTGAA... | GCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGAGAGGCGGAAGTTGCAGTGAGCAGACATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAACTGAACCCCAACATGATGTACTATGTGAAGACTCATGCTGACCTGGGTGCCCTTACCTCACAGCTTTGGTGAGCTTGACCTGGCCCTCTGCTGGAGAGACGAGCATGGTGGAGGTAGTGGGGATCTCCTCGTCTAGCGACGGTCCCAATTCCAGACTCGCAGATGGCTGGAGACCGACATGCTGAA... |
Task1_train_31070 | A variant was discovered in gene ELF4 (E74 like ETS transcription factor 4), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; See cases | GAGCATGGTGGAGGTAGTGGGGATCTCCTCGTCTAGCGACGGTCCCAATTCCAGACTCGCAGATGGCTGGAGACCGACATGCTGAATTTTTGGCTTCTCCCAAGAAGAGCTGCCCTTGCCCTGGGGGGCAGATCTGGATGAGACCCTGGAGCTGGTTCGCCGGGTGGTACTGGCAGAGGCCACAGAGGCCGTGGAGGCCTGAGGTGGGGCTGCTGTGGCTTCGCTGCTCTCATCCTCATCTTCAATGACCACCAGGTCCTTGGGCATCTCCTTAAACTGGTACACCAGCCTCTGCCCTTCCACTTTGGCCAGTATGCCTC... | GAGCATGGTGGAGGTAGTGGGGATCTCCTCGTCTAGCGACGGTCCCAATTCCAGACTCGCAGATGGCTGGAGACCGACATGCTGAATTTTTGGCTTCTCCCAAGAAGAGCTGCCCTTGCCCTGGGGGGCAGATCTGGATGAGACCCTGGAGCTGGTTCGCCGGGTGGTACTGGCAGAGGCCACAGAGGCCGTGGAGGCCTGAGGTGGGGCTGCTGTGGCTTCGCTGCTCTCATCCTCATCTTCAATGACCACCAGGTCCTTGGGCATCTCCTTAAACTGGTACACCAGCCTCTGCCCTTCCACTTTGGCCAGTATGCCTC... |
Task1_train_31071 | This genomic variant is located on Chromosome X, within the AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe X-linked mitochondrial encephalomyopathy | GTGTTCTTGAGATTCGCCTGAAGCAAAATAATAAAAATGACAACTGAAAGAAAGAAAAATAAAAACGCAATCTAAAAAGTTCAGGTTTTCTTGTTTTCTTCCTTAGAAAGGTCTTCCCAGAGACACACAAAACAGCAGTGTCATTGAGCTAGCCACTGTCCACTGTCTAGGACAGATACCCACAATATTTGAATCTATGCTTTGACCAGGATACCTGATTTTGCCAAATCTCAGACCACTAAAGAGTGAGGACTTGGGGTTTGGTTTCTTTTAAAGCACAACATGAAGAGAGGCTTTCACTGACAAGCCCCTCTGGCCAA... | GTGTTCTTGAGATTCGCCTGAAGCAAAATAATAAAAATGACAACTGAAAGAAAGAAAAATAAAAACGCAATCTAAAAAGTTCAGGTTTTCTTGTTTTCTTCCTTAGAAAGGTCTTCCCAGAGACACACAAAACAGCAGTGTCATTGAGCTAGCCACTGTCCACTGTCTAGGACAGATACCCACAATATTTGAATCTATGCTTTGACCAGGATACCTGATTTTGCCAAATCTCAGACCACTAAAGAGTGAGGACTTGGGGTTTGGTTTCTTTTAAAGCACAACATGAAGAGAGGCTTTCACTGACAAGCCCCTCTGGCCAA... |
Task1_train_31072 | This sequence change occurs on Chromosome X, altering AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe X-linked mitochondrial encephalomyopathy | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... |
Task1_train_31073 | This mutation occurs in AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... |
Task1_train_31074 | Gene AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined oxidative phosphorylation deficiency | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... |
Task1_train_31075 | A variant was discovered in gene AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Deafness, X-linked 5 | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... | ACAAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGGCGTGTGTGGTGGCAAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGACTGGGAAACAGAGCGAGACACCGCCTCAAAAAAAAAAAGAAAAAAAAATCTATTCTGCTTCCATAAAGCTAACCTAAATCTTCTATAGTTTTGTTTACTTATGTCTACTTCCTGTTCTTTCCTTAACAGACAGGATATTTAATAACC... |
Task1_train_31076 | Here’s a variant in RAB33A, AIFM1 (RAB33A, member RAS oncogene family| apoptosis inducing factor mitochondria associated 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Severe X-linked mitochondrial encephalomyopathy | TTTTTTGAGACTGAGTCTTGCTCTGTTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTCCACTCACTGCAGCCTCTGCCTCCTTAGTTCAAGTGATTCTCCTGCCTCACTCAGCCTCCCAAGTAGCTGGGATTACAGGCCTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGATCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTTCTCCTGGCCCACGTATTACTTTTATAACAGGTTA... | TTTTTTGAGACTGAGTCTTGCTCTGTTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTCCACTCACTGCAGCCTCTGCCTCCTTAGTTCAAGTGATTCTCCTGCCTCACTCAGCCTCCCAAGTAGCTGGGATTACAGGCCTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGATCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTTCTCCTGGCCCACGTATTACTTTTATAACAGGTTA... |
Task1_train_31077 | This mutation occurs in AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 4 | GGGTGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCAGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCAGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATCGCTGTTAAGTTGCTCAGGTGACAGCTTTTTGGTCACCAAGGGATCCCTCACCAGA... | GGGTGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCAGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCAGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATCGCTGTTAAGTTGCTCAGGTGACAGCTTTTTGGTCACCAAGGGATCCCTCACCAGA... |
Task1_train_31078 | This mutation occurs in AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Deafness, X-linked 5 | TTAATTAAACTCTTCCTACTGATCCTGCCAAACACATCTCTGGGATTCACAGAAAAGCTATATAAGACTAGAGAAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCT... | TTAATTAAACTCTTCCTACTGATCCTGCCAAACACATCTCTGGGATTCACAGAAAAGCTATATAAGACTAGAGAAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCT... |
Task1_train_31079 | A sequence alteration has been identified in AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Spondyloepimetaphyseal dysplasia, Bieganski type | TAGAGAAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCTTGTATAAAGTGACTCAATTATAACTTCTATGTTATTAATGCAAATTTATTTCTTCATGGTAAAATTCC... | TAGAGAAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCTTGTATAAAGTGACTCAATTATAACTTCTATGTTATTAATGCAAATTTATTTCTTCATGGTAAAATTCC... |
Task1_train_31080 | This variant lies on Chromosome X and affects the gene AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spondyloepimetaphyseal dysplasia, Bieganski type | AAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCTTGTATAAAGTGACTCAATTATAACTTCTATGTTATTAATGCAAATTTATTTCTTCATGGTAAAATTCCTTCTA... | AAAGAAAATCAAGGTCACTCCTCAATACTCACCCTTTCTGCCAAGAGCACAGGCCAGTTCGCTACCAAGGAAGCCCCCACCGATAATCGTAATTGATTTGACTTCCCGTGAAATCTTCTCCAAGCTTCTAAAGTCTCCAATCTGCAGGATCACATCAGTTTAGTCCATTAATTTCCAAAAGGGGCATAGGATAATAATACTAGAAAGTAGTTTCTTCTAAATCTTTGGCAAAAGTAAATTTTCTCCTTGTATAAAGTGACTCAATTATAACTTCTATGTTATTAATGCAAATTTATTTCTTCATGGTAAAATTCCTTCTA... |
Task1_train_31081 | Given this context: Chromosome X, gene AIFM1, RAB33A (apoptosis inducing factor mitochondria associated 1| RAB33A, member RAS oncogene family) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 4 | CTTGGGGCAATTTTGCTCCCAGGGGATGTTTGCCAGTGTCCAGAGACAATCTGGGTTGTAATAACTTGGGTAGGGATGCTACTCATATCCAGTGGGTAATGGCCAGGGATGCTGCTAAACATCCTATGATGCACTGGACAGCTCCCCACCCCCAGCAAAGCGTTATCCTGCTCCAAATGTCAATAGTGCTGAGGCTGAGGATCCTGCTCTAGATTTAGGTTCATTTCAAAGTAAGAACAAGTGGAGCACCCAAAGAGCTGGTATTCACATATCCACCCAAATGGGTTGTCCAGAATGGTGCTCTTCAATGGAACAACTAA... | CTTGGGGCAATTTTGCTCCCAGGGGATGTTTGCCAGTGTCCAGAGACAATCTGGGTTGTAATAACTTGGGTAGGGATGCTACTCATATCCAGTGGGTAATGGCCAGGGATGCTGCTAAACATCCTATGATGCACTGGACAGCTCCCCACCCCCAGCAAAGCGTTATCCTGCTCCAAATGTCAATAGTGCTGAGGCTGAGGATCCTGCTCTAGATTTAGGTTCATTTCAAAGTAAGAACAAGTGGAGCACCCAAAGAGCTGGTATTCACATATCCACCCAAATGGGTTGTCCAGAATGGTGCTCTTCAATGGAACAACTAA... |
Task1_train_31082 | A variant was discovered on Chromosome X, affecting IGSF1 (immunoglobulin superfamily member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked central congenital hypothyroidism with late-onset testicular enlargement | CCTTTTACCCCCTTATTGCTTACTGCTAAAAACTACAAAATCGTGACTTGTACTGAAGTCTCCAGGACCTTACCAGTCACCCAGATCTCCAGGGAGTCACTGTGATTTGAAGCTGCAAAGGGAGTAGAGTCCAAATAATAAACACAGCTATAGATCCCAGAGTCTTCACCTCTCACTGCTGGCATCCAGAAGTCAGCCCTGTACCCACTTGGCCTCTGTTGCTCTAAAGGCTCCTGAGCCCCCTCCTTCAACAGGACAAATGTTGAGTCTGGCAGTTCCCCTTGACACTGAAGAGTCATATTTTCGCCAGGGGCCACCAT... | CCTTTTACCCCCTTATTGCTTACTGCTAAAAACTACAAAATCGTGACTTGTACTGAAGTCTCCAGGACCTTACCAGTCACCCAGATCTCCAGGGAGTCACTGTGATTTGAAGCTGCAAAGGGAGTAGAGTCCAAATAATAAACACAGCTATAGATCCCAGAGTCTTCACCTCTCACTGCTGGCATCCAGAAGTCAGCCCTGTACCCACTTGGCCTCTGTTGCTCTAAAGGCTCCTGAGCCCCCTCCTTCAACAGGACAAATGTTGAGTCTGGCAGTTCCCCTTGACACTGAAGAGTCATATTTTCGCCAGGGGCCACCAT... |
Task1_train_31083 | Here is a variant affecting IGSF1 (immunoglobulin superfamily member 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked central congenital hypothyroidism with late-onset testicular enlargement | ATTAACACTCTATCTTTCTCCTCTTGGGCACGGTAGTTCCCCTCCGTGGCCTAGCCTAGCCTTCCAGGAGGAATTACTCTCCCTAACCCCTTCTCCAATGATCTCCATCCCAGTCCCATGTCCGGTCGGTCCTTACCAGTCACCCAGATCATAAGGGGCATACTGAGATATGACCCCCTGTTTGACATGGTTGTCTCATAGTAGATACAGCTATAGTTCCCAGAGTCCTCTGCTCCAACAGTGTGGAGAAGGAAGTCAGCTGAGTTCCCTGAGACACTCCGAAACTGTAAGGGAACATGGGCTCCCTCCTGCAAGAGGGC... | ATTAACACTCTATCTTTCTCCTCTTGGGCACGGTAGTTCCCCTCCGTGGCCTAGCCTAGCCTTCCAGGAGGAATTACTCTCCCTAACCCCTTCTCCAATGATCTCCATCCCAGTCCCATGTCCGGTCGGTCCTTACCAGTCACCCAGATCATAAGGGGCATACTGAGATATGACCCCCTGTTTGACATGGTTGTCTCATAGTAGATACAGCTATAGTTCCCAGAGTCCTCTGCTCCAACAGTGTGGAGAAGGAAGTCAGCTGAGTTCCCTGAGACACTCCGAAACTGTAAGGGAACATGGGCTCCCTCCTGCAAGAGGGC... |
Task1_train_31084 | A variant was discovered on Chromosome X, affecting IGSF1 (immunoglobulin superfamily member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TTGGGACTCCACTTATGCACAGTTGTGTAGTTGTGTAGTATGCAGCTGACATTTCAAGGTCTTCTCCCTTTCTCTGAGAGCCATCCAGCCCACCGGTCTCTGACAGCCCAGCTAGAGAAAAAGTGGACATTGAGCCTAAAGCTCAATGCCAAGCCATAAAAATGTGCAGAAATAGGGCAAGTTGAACCGAGCTCTTGGGATTAGACACCCCCATCTACCTCATTTATTTCCCCAGAAGTGAATTGCTTGCCTCCCCACTGCCTTTGTTTCTTGTTCCTGTAATAATAACATGAGCAGCTGTGCATCATGGACTGGTCACT... | TTGGGACTCCACTTATGCACAGTTGTGTAGTTGTGTAGTATGCAGCTGACATTTCAAGGTCTTCTCCCTTTCTCTGAGAGCCATCCAGCCCACCGGTCTCTGACAGCCCAGCTAGAGAAAAAGTGGACATTGAGCCTAAAGCTCAATGCCAAGCCATAAAAATGTGCAGAAATAGGGCAAGTTGAACCGAGCTCTTGGGATTAGACACCCCCATCTACCTCATTTATTTCCCCAGAAGTGAATTGCTTGCCTCCCCACTGCCTTTGTTTCTTGTTCCTGTAATAATAACATGAGCAGCTGTGCATCATGGACTGGTCACT... |
Task1_train_31085 | A variant found in Chromosome X affects FRMD7 (FERM domain containing 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CCTCGTTTATTGTTGAAATCAAAAGACTAGATGAATGACATATGTCATGAATCTTTGACCATCACAATGATAATACCCACTTATTCAAGGACCAGGCAGAGAACAACCTCAACTACTCAGAACGCAGGTAATTTTTAAAGGCCTCTGAACAGGGTTACATAACAGCTAAAAATTGTGGGCTTTAAAAATAATATACCTGGTCTGGGCATGGTGGCTCACACCTTAATCCCAGCCCTTTGGGAGGCTGAGGCAGGAGGATGACTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAA... | CCTCGTTTATTGTTGAAATCAAAAGACTAGATGAATGACATATGTCATGAATCTTTGACCATCACAATGATAATACCCACTTATTCAAGGACCAGGCAGAGAACAACCTCAACTACTCAGAACGCAGGTAATTTTTAAAGGCCTCTGAACAGGGTTACATAACAGCTAAAAATTGTGGGCTTTAAAAATAATATACCTGGTCTGGGCATGGTGGCTCACACCTTAATCCCAGCCCTTTGGGAGGCTGAGGCAGGAGGATGACTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAA... |
Task1_train_31086 | A variant has been detected on Chromosome X in FRMD7 (FERM domain containing 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Nystagmus 1, congenital, X-linked | ACCCACTTATTCAAGGACCAGGCAGAGAACAACCTCAACTACTCAGAACGCAGGTAATTTTTAAAGGCCTCTGAACAGGGTTACATAACAGCTAAAAATTGTGGGCTTTAAAAATAATATACCTGGTCTGGGCATGGTGGCTCACACCTTAATCCCAGCCCTTTGGGAGGCTGAGGCAGGAGGATGACTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAAATAATAAAAATTACCCGGCCATGGTAGTGCATGCCTGTAGTCCCTACCACTTGGGAGGCTGAGGTGGGAGGAT... | ACCCACTTATTCAAGGACCAGGCAGAGAACAACCTCAACTACTCAGAACGCAGGTAATTTTTAAAGGCCTCTGAACAGGGTTACATAACAGCTAAAAATTGTGGGCTTTAAAAATAATATACCTGGTCTGGGCATGGTGGCTCACACCTTAATCCCAGCCCTTTGGGAGGCTGAGGCAGGAGGATGACTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAAATAATAAAAATTACCCGGCCATGGTAGTGCATGCCTGTAGTCCCTACCACTTGGGAGGCTGAGGTGGGAGGAT... |
Task1_train_31087 | This variant affects the gene FRMD7 (FERM domain containing 7) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GCCATGGTGAACTCCAAGGTATCCTTGCACAACACCTGTATAAACCAATTTCCATTAAGTAAAACATCCTTCAAGAATATCAAAGACCTTCAAATCCCAATGCCTTCCAAACTATTGCTCCGTTGGCCCATGCAGCTTCTGATTTTCCACTTGGCTCCCTGTAGGTTTCACACCTGCTGAAACCTAATGATTGGCAACCTTGCGAGGAATAGACAGGGCCACTGCTCACAAACAGAGCCTTCTCTAAGAAGCAAATATTGCTTTGCACACTCCCCTCACCTTAAATACCTTTTTTACTCACTCTTCTCTGCCAGAAACAT... | GCCATGGTGAACTCCAAGGTATCCTTGCACAACACCTGTATAAACCAATTTCCATTAAGTAAAACATCCTTCAAGAATATCAAAGACCTTCAAATCCCAATGCCTTCCAAACTATTGCTCCGTTGGCCCATGCAGCTTCTGATTTTCCACTTGGCTCCCTGTAGGTTTCACACCTGCTGAAACCTAATGATTGGCAACCTTGCGAGGAATAGACAGGGCCACTGCTCACAAACAGAGCCTTCTCTAAGAAGCAAATATTGCTTTGCACACTCCCCTCACCTTAAATACCTTTTTTACTCACTCTTCTCTGCCAGAAACAT... |
Task1_train_31088 | This genomic variant is located on Chromosome X, within the FRMD7 (FERM domain containing 7) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nystagmus 1, congenital, X-linked | GTGAACTCCAAGGTATCCTTGCACAACACCTGTATAAACCAATTTCCATTAAGTAAAACATCCTTCAAGAATATCAAAGACCTTCAAATCCCAATGCCTTCCAAACTATTGCTCCGTTGGCCCATGCAGCTTCTGATTTTCCACTTGGCTCCCTGTAGGTTTCACACCTGCTGAAACCTAATGATTGGCAACCTTGCGAGGAATAGACAGGGCCACTGCTCACAAACAGAGCCTTCTCTAAGAAGCAAATATTGCTTTGCACACTCCCCTCACCTTAAATACCTTTTTTACTCACTCTTCTCTGCCAGAAACATTTTTAT... | GTGAACTCCAAGGTATCCTTGCACAACACCTGTATAAACCAATTTCCATTAAGTAAAACATCCTTCAAGAATATCAAAGACCTTCAAATCCCAATGCCTTCCAAACTATTGCTCCGTTGGCCCATGCAGCTTCTGATTTTCCACTTGGCTCCCTGTAGGTTTCACACCTGCTGAAACCTAATGATTGGCAACCTTGCGAGGAATAGACAGGGCCACTGCTCACAAACAGAGCCTTCTCTAAGAAGCAAATATTGCTTTGCACACTCCCCTCACCTTAAATACCTTTTTTACTCACTCTTCTCTGCCAGAAACATTTTTAT... |
Task1_train_31089 | This is a variant in FRMD7 (FERM domain containing 7), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Nystagmus 1, congenital, X-linked | CAAAAATTAGTTGATACACACTTTTTATTTTCTTTATGGTCATAAGAAAATTCCTTTCTAGACTAAGTGGCTCATGCCTGGTAACGTCAGCACTTTGGGAGGCCAGAGTAAGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATATGTTTTAAAAATTAGCGAAGTGTGGTGGCACATGCCTGTAGTCCTAGCTACTCAAAAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGACGTTGAGGCTGCTCTGAGCTACATGTCACCACTCCACTTCAGTGTGGGCA... | CAAAAATTAGTTGATACACACTTTTTATTTTCTTTATGGTCATAAGAAAATTCCTTTCTAGACTAAGTGGCTCATGCCTGGTAACGTCAGCACTTTGGGAGGCCAGAGTAAGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATATGTTTTAAAAATTAGCGAAGTGTGGTGGCACATGCCTGTAGTCCTAGCTACTCAAAAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGACGTTGAGGCTGCTCTGAGCTACATGTCACCACTCCACTTCAGTGTGGGCA... |
Task1_train_31090 | A variant on Chromosome X in gene FRMD7 (FERM domain containing 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nystagmus 1, congenital, X-linked | ATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGAGGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGTTGATTGCCCCACCTTGGCCTCTCAAAGTGCTAGGATTACAGGTGTGAGCTACTGTGTCTGGCCCCAATATTTTGTTTTATAAATTAAAACACTGAGTACTATGAGCATTTCCCTATAAAAATGTGATTTTCTAAATAAAGGTCTATGTGTACTTTTTTTAAAACCAATTAAGCCTTGAAGGCAATGTGGTGAATCAAAATTAATCGCAAGTGATATGTGAAAATCTAGATTGAAAAAG... | ATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGAGGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGTTGATTGCCCCACCTTGGCCTCTCAAAGTGCTAGGATTACAGGTGTGAGCTACTGTGTCTGGCCCCAATATTTTGTTTTATAAATTAAAACACTGAGTACTATGAGCATTTCCCTATAAAAATGTGATTTTCTAAATAAAGGTCTATGTGTACTTTTTTTAAAACCAATTAAGCCTTGAAGGCAATGTGGTGAATCAAAATTAATCGCAAGTGATATGTGAAAATCTAGATTGAAAAAG... |
Task1_train_31091 | A variant affecting Chromosome X, within the gene FRMD7 (FERM domain containing 7), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Nystagmus 1, congenital, X-linked | TCCGCCTGCCTCAGAAACATCTGTGGAATTTTGTTTTCAATAGATTTCTTTGGGAGTAATGTAGATGATGGATGAGGGGAATCAATTTGGAAGCTGTTGGAATAATGTGACAGGTGATCCTTATGCAGTGGGAACAGACAGAACTTTGGGAAGCACTAACATGTAAAGAGCAGGTAGAGGAAGAGGAACCAGTAAAAGAGACATTAAAACAGTGCAAAGTCCTGATACAACTCCGCCTGCCTCAGAAACATCTGTGGAATTTTGTAAACATGCAGGTTATTGGCAACTCAGGAATAAGGCCCAGGAATCGGCATTTAACA... | TCCGCCTGCCTCAGAAACATCTGTGGAATTTTGTTTTCAATAGATTTCTTTGGGAGTAATGTAGATGATGGATGAGGGGAATCAATTTGGAAGCTGTTGGAATAATGTGACAGGTGATCCTTATGCAGTGGGAACAGACAGAACTTTGGGAAGCACTAACATGTAAAGAGCAGGTAGAGGAAGAGGAACCAGTAAAAGAGACATTAAAACAGTGCAAAGTCCTGATACAACTCCGCCTGCCTCAGAAACATCTGTGGAATTTTGTAAACATGCAGGTTATTGGCAACTCAGGAATAAGGCCCAGGAATCGGCATTTAACA... |
Task1_train_31092 | The following genetic variant occurs in FRMD7 (FERM domain containing 7) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | GCTACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCA... | GCTACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCA... |
Task1_train_31093 | Given a variant located on Chromosome X and affecting FRMD7 (FERM domain containing 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CTACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCAT... | CTACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCAT... |
Task1_train_31094 | Mutation context: Chromosome X, Gene FRMD7 (FERM domain containing 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCATC... | TACTGACAGATGAGTCTACTGTTTACAATTGTATATGAAGGAGAGGGGAGAGTTCTGGATTGGAAGTCCAGCTCTGCAATTATATGCTGTGTGATTGTGCACACGTCACTTAAGTTCCCTGAGCCTCCATCTTTTAACTTACAAAATGGGAAAAGATCTTTTCCCTACCTTCACTCACAAGGCTGAATGGAAGATCAAATGAACTAATGGATGTGAAAGTGCTTTGTAAATTTTAAAGTGCTATCCACAGATGACTCACTACTGCTATCATCATCATCACCACCATTATCATCATCATCACTATCATCATCATCATCATC... |
Task1_train_31095 | A variant was discovered on Chromosome X, affecting HS6ST2 (heparan sulfate 6-O-sulfotransferase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Paganini-Miozzo syndrome | TAACCAAGAAAATCCTATGTCATTTCAAATAATTTTGCTTCAATTTGGGACAATCCAAGAGGCTTTGAGGGGTTCTGGTTATCTTCTGGAGAATGCGGGAAGGAATCTGCCAGAGGACAGTAGCCACCAAACAGATAATCTAGACCACATTAATAATGTGTGTTTATAGACATCATACTCTGACCTACATGTTCAAAAGGATCAGTAAAGGCACATGTGCCCCATGGAACTCCAGACAAGGCCATGGCTTTCATGGTGACCAAGACCTTGTTTTCACTTCTCTGCTATAGTCATGGCTGTGGAATTCTACTTTTGCCCAG... | TAACCAAGAAAATCCTATGTCATTTCAAATAATTTTGCTTCAATTTGGGACAATCCAAGAGGCTTTGAGGGGTTCTGGTTATCTTCTGGAGAATGCGGGAAGGAATCTGCCAGAGGACAGTAGCCACCAAACAGATAATCTAGACCACATTAATAATGTGTGTTTATAGACATCATACTCTGACCTACATGTTCAAAAGGATCAGTAAAGGCACATGTGCCCCATGGAACTCCAGACAAGGCCATGGCTTTCATGGTGACCAAGACCTTGTTTTCACTTCTCTGCTATAGTCATGGCTGTGGAATTCTACTTTTGCCCAG... |
Task1_train_31096 | A genetic alteration is present in USP26 (ubiquitin specific peptidase 26) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spermatogenic failure, X-linked, 6 | TCCTTCTAGATAAACTGTGTTCTGAATACAATCTCCAAACTTTGGAATCTGGTTTTCCTCTTACAGGGTATTACCTACTAATAACTTCCCCACATCACTAAAATCCAACTCACCTATTTTAAAGGACCCTAGGCTTAAGAGCATCAACAAGCTCTTGGATTAATACAACTATACTGAAGCCATACCCCATATACAAGGGGGCATATTCCTATTGGTAAAGGTGTGACTGAAAATTCAATCCTATGTTATGTGAGAAAACCTCTTAGTACAAGTCATTTGTTCACAGCAAAGGCACAAAGTACAACAGATTCACTGCCTCA... | TCCTTCTAGATAAACTGTGTTCTGAATACAATCTCCAAACTTTGGAATCTGGTTTTCCTCTTACAGGGTATTACCTACTAATAACTTCCCCACATCACTAAAATCCAACTCACCTATTTTAAAGGACCCTAGGCTTAAGAGCATCAACAAGCTCTTGGATTAATACAACTATACTGAAGCCATACCCCATATACAAGGGGGCATATTCCTATTGGTAAAGGTGTGACTGAAAATTCAATCCTATGTTATGTGAGAAAACCTCTTAGTACAAGTCATTTGTTCACAGCAAAGGCACAAAGTACAACAGATTCACTGCCTCA... |
Task1_train_31097 | Gene USP26 (ubiquitin specific peptidase 26), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spermatogenic failure, X-linked, 6 | CTAATAACTTCCCCACATCACTAAAATCCAACTCACCTATTTTAAAGGACCCTAGGCTTAAGAGCATCAACAAGCTCTTGGATTAATACAACTATACTGAAGCCATACCCCATATACAAGGGGGCATATTCCTATTGGTAAAGGTGTGACTGAAAATTCAATCCTATGTTATGTGAGAAAACCTCTTAGTACAAGTCATTTGTTCACAGCAAAGGCACAAAGTACAACAGATTCACTGCCTCAAAGGCAGGAAAAGGTTATGATAATAGTGGTGGCACATGCTTGATGGCAAAATTATTAAATCCCCTGGATTTTAATGA... | CTAATAACTTCCCCACATCACTAAAATCCAACTCACCTATTTTAAAGGACCCTAGGCTTAAGAGCATCAACAAGCTCTTGGATTAATACAACTATACTGAAGCCATACCCCATATACAAGGGGGCATATTCCTATTGGTAAAGGTGTGACTGAAAATTCAATCCTATGTTATGTGAGAAAACCTCTTAGTACAAGTCATTTGTTCACAGCAAAGGCACAAAGTACAACAGATTCACTGCCTCAAAGGCAGGAAAAGGTTATGATAATAGTGGTGGCACATGCTTGATGGCAAAATTATTAAATCCCCTGGATTTTAATGA... |
Task1_train_31098 | The variant affects gene GPC3 (glypican 3), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Simpson-Golabi-Behmel syndrome type 1 | GTCCTCTTTCCTAGTTTAATTCACCAAAGAAACTAATTACTCCTAGAGTTTAAAGACAAGCTGAAATAGCCTAATCCACCCTCCACATTTTGGATAAGCAATAGTTCAGAGTGCACAGCAGTTGCACTGTATAGATGCTAAGGGTGTCTATCAACCAAGCCAACAAAGTCTGGGTTTGAATCCCAGCTCCTCTGACTTAACTAGCTTTGAGGAAGAAATAAGACTCAGTGTTTGATAGATCAGTAGAGTGTCTACAGTGTATAGTAATCTATCATATATTTCTTTCTCTCTCTTGTTTTTTTTGTTTTTGTTTTTGTTTT... | GTCCTCTTTCCTAGTTTAATTCACCAAAGAAACTAATTACTCCTAGAGTTTAAAGACAAGCTGAAATAGCCTAATCCACCCTCCACATTTTGGATAAGCAATAGTTCAGAGTGCACAGCAGTTGCACTGTATAGATGCTAAGGGTGTCTATCAACCAAGCCAACAAAGTCTGGGTTTGAATCCCAGCTCCTCTGACTTAACTAGCTTTGAGGAAGAAATAAGACTCAGTGTTTGATAGATCAGTAGAGTGTCTACAGTGTATAGTAATCTATCATATATTTCTTTCTCTCTCTTGTTTTTTTTGTTTTTGTTTTTGTTTT... |
Task1_train_31099 | A variant has been detected on Chromosome X in GPC3 (glypican 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Wilms tumor 1 | CAACCCTCCCGCCTAGGCATCCCAAAGTGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGAT... | CAACCCTCCCGCCTAGGCATCCCAAAGTGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGAT... |
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