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_27800 | This gene mutation involves PAX1 (paired box 1) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGCGCCGGATCTATGCGCCCCTTAGCAGCAGATCGGGATCCTTTTGCCTCCTGCCCCTTCT... | CAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGCGCCGGATCTATGCGCCCCTTAGCAGCAGATCGGGATCCTTTTGCCTCCTGCCCCTTCT... |
Task1_train_27801 | Here is a genetic alteration in THBD (thrombomodulin) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTGTACCTAGCCTTTTCTACCAAAGAGCAAAGCTACACAAAGAAAATTCCTCAGTTTCTTGAAAATAAGGGCCTGACTTGGCCTGCTACTTATAACTGATCTATATTTCATGTATTCCAGAAAATTGGAAGCAGTCTGGAATGGTTGTCCTCAAATTACTGAGCAGACACACCCCCTGCAGATCTTGTTAAATATAGATTCTCATGAACTGGATGGGGTGGAGCCTAGGATTCTGCATTTCTAACCAGCTCCCATGGGCAGGGCAGCTTCCAATTCTTGTTCAGGGGCCACATTCCAAAAGGCCTCTCTGAAATGGTAGA... | GTGTACCTAGCCTTTTCTACCAAAGAGCAAAGCTACACAAAGAAAATTCCTCAGTTTCTTGAAAATAAGGGCCTGACTTGGCCTGCTACTTATAACTGATCTATATTTCATGTATTCCAGAAAATTGGAAGCAGTCTGGAATGGTTGTCCTCAAATTACTGAGCAGACACACCCCCTGCAGATCTTGTTAAATATAGATTCTCATGAACTGGATGGGGTGGAGCCTAGGATTCTGCATTTCTAACCAGCTCCCATGGGCAGGGCAGCTTCCAATTCTTGTTCAGGGGCCACATTCCAAAAGGCCTCTCTGAAATGGTAGA... |
Task1_train_27802 | A variant on Chromosome 20 in gene THBD (thrombomodulin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Thrombomodulin-related bleeding disorder | AGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAG... | AGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAG... |
Task1_train_27803 | A mutation on Chromosome 20 affecting CST3 (cystatin C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary cerebral amyloid angiopathy, Icelandic type | ATGACCTGGCGAGCTCCACCGAGGCCTGGCCCCTGTCTATGGACACAGCCAGCTCCCTCCTCCTGGTCTGACCAGCAGCTCAGACCAAATCACCAGCCCAGCTTCTGGGGGCAGCAGCTTGGGCCCCTCCTCTCCCTGACCCCCTCACCAGGGGCTGCTGTGGCTCAATGCCTTGTTTCCCAGCCCCTGGCTGCTCTCCCTGCTCTGAGACTCAGGACTCCTATAGCAGCAGCTTGCCTGATGGCCTTGCTGTGGCCGCGTCAGCTCCCAGGTACTCCTCTCATCTTCACACCAGCAGGACAAGGAGGCTTCATAAAGGA... | ATGACCTGGCGAGCTCCACCGAGGCCTGGCCCCTGTCTATGGACACAGCCAGCTCCCTCCTCCTGGTCTGACCAGCAGCTCAGACCAAATCACCAGCCCAGCTTCTGGGGGCAGCAGCTTGGGCCCCTCCTCTCCCTGACCCCCTCACCAGGGGCTGCTGTGGCTCAATGCCTTGTTTCCCAGCCCCTGGCTGCTCTCCCTGCTCTGAGACTCAGGACTCCTATAGCAGCAGCTTGCCTGATGGCCTTGCTGTGGCCGCGTCAGCTCCCAGGTACTCCTCTCATCTTCACACCAGCAGGACAAGGAGGCTTCATAAAGGA... |
Task1_train_27804 | Gene ABHD12 (abhydrolase domain containing 12, lysophospholipase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PHARC syndrome | AGGACCACCACCACGATTTTATTCTTAAATAAAGCTCAGTCTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAG... | AGGACCACCACCACGATTTTATTCTTAAATAAAGCTCAGTCTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAG... |
Task1_train_27805 | Located on Chromosome 20, this mutation impacts KIF3B (kinesin family member 3B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 89 | CTTGGCTCTCTGCAACTTCTGCCTCCTAGGCTCAAGTGATTCTCGTGCCACGGCCCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCCAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCACAAGGGATCCATCCACCTCGTTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGTCATTATTTTTATTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGCGCAGTGCCAGGATCTCGG... | CTTGGCTCTCTGCAACTTCTGCCTCCTAGGCTCAAGTGATTCTCGTGCCACGGCCCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCCAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCACAAGGGATCCATCCACCTCGTTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGTCATTATTTTTATTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGCGCAGTGCCAGGATCTCGG... |
Task1_train_27806 | The variant affects gene KIF3B (kinesin family member 3B), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 89 | AAAAAAAAAAAAAGAATGTTAGAGTGGTTAGGTATTGTTAGGTATGTATGTGGAGTTTAGCAATCTAGTCCAGCCCCTTCATTCGAGAGGTGAGGAAACAGGCTCAGAGGACTCACTGAAAGATGGCAGCAGAGCTCCAGTGAGGTTTATAAGTTTCTTAAAAGTTGTGCAGTTTTGGGGTCCCATACTTTTTAGGTCAAAATCATTCTCATGGCTTCAGCCCCTATCAAAATGCTGAAGGCTCCCAATCTGTATATCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCATTGTATGTCTAGCCTAGCACTGTCTCCTG... | AAAAAAAAAAAAAGAATGTTAGAGTGGTTAGGTATTGTTAGGTATGTATGTGGAGTTTAGCAATCTAGTCCAGCCCCTTCATTCGAGAGGTGAGGAAACAGGCTCAGAGGACTCACTGAAAGATGGCAGCAGAGCTCCAGTGAGGTTTATAAGTTTCTTAAAAGTTGTGCAGTTTTGGGGTCCCATACTTTTTAGGTCAAAATCATTCTCATGGCTTCAGCCCCTATCAAAATGCTGAAGGCTCCCAATCTGTATATCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCATTGTATGTCTAGCCTAGCACTGTCTCCTG... |
Task1_train_27807 | A mutation on Chromosome 20 affecting ASXL1 (ASXL transcriptional regulator 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bohring-Opitz syndrome | CTGATCATGTAGGAAGCCACTGCTTGGCACATACCCAGCTTCCAGATTCCCAAAAGGAAGGCAGGTGTTCAGCATAAGCCGTATTGTTTGCATAAACAATTTAGGCACAGTGAACAACTCATATCAGTTAGGGTGGTTGGGAACCCTCCTGAAATCTAAGTTCCCAGATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACT... | CTGATCATGTAGGAAGCCACTGCTTGGCACATACCCAGCTTCCAGATTCCCAAAAGGAAGGCAGGTGTTCAGCATAAGCCGTATTGTTTGCATAAACAATTTAGGCACAGTGAACAACTCATATCAGTTAGGGTGGTTGGGAACCCTCCTGAAATCTAAGTTCCCAGATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACT... |
Task1_train_27808 | This variant lies on Chromosome 20 and affects the gene DNMT3B (DNA methyltransferase 3 beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GCGGGTATGGCAACATTTCACTCTCTGAGAGTCCCTCGTCATTACCCATCATTTGTGCCTTTGTCATCTTTCTGTCTCTGGGACAGTTACAATGACTTTCTCCCCCCTTAAGGGATACGTGTTCCTGGAAAAGTTTCTTCAGCGGTCTCTGTTCTCTTTAACTTCAGTCTTTCCTCTTTCTTTTTGCCTAGGAGCCATATGGGGGTGCCGTTGGTCTCTGGTCACCGACATCCTTTGCTCTGGCCCAAACTATGTGTCCTTCTGTCCACAGTCCCTGAGACGGCGGGCAACAGCATCGGCAGGAACGCCATGGCCGTCCC... | GCGGGTATGGCAACATTTCACTCTCTGAGAGTCCCTCGTCATTACCCATCATTTGTGCCTTTGTCATCTTTCTGTCTCTGGGACAGTTACAATGACTTTCTCCCCCCTTAAGGGATACGTGTTCCTGGAAAAGTTTCTTCAGCGGTCTCTGTTCTCTTTAACTTCAGTCTTTCCTCTTTCTTTTTGCCTAGGAGCCATATGGGGGTGCCGTTGGTCTCTGGTCACCGACATCCTTTGCTCTGGCCCAAACTATGTGTCCTTCTGTCCACAGTCCCTGAGACGGCGGGCAACAGCATCGGCAGGAACGCCATGGCCGTCCC... |
Task1_train_27809 | This variant lies on Chromosome 20 and affects the gene DNMT3B, LOC126863014 (DNA methyltransferase 3 beta| CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:31385992-31387191). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Facioscapulohumeral muscular dystrophy 4, digenic | AGCTTCTCAAGGATTGTCACACCAGGGAGGTCCCCCTGCTCAGCGTTCTGCCTGACATCATCCTACTGGGGCAGCCCCTTGCCCATCTTGATGTTCCCCATCTGTGAAGTAGGGATGCCACCTGGAAGCATTGTTGAGTGGTAGAAGCTGTGAGGCATGGCCTGAGGTGCAAAGAGTCCTTGGCAAGCTGCTGGCCTGGAGGGAAATCTTAGGAACTGAGAGACCCCAGGCTTTAGCAGCTGGTGTCAGGGCCTCAACTGCCAAAAGCCACAACCCTGTTTTTCTTACAGATGGCTGTTTGTCTTGTGGCAGGAAAAACC... | AGCTTCTCAAGGATTGTCACACCAGGGAGGTCCCCCTGCTCAGCGTTCTGCCTGACATCATCCTACTGGGGCAGCCCCTTGCCCATCTTGATGTTCCCCATCTGTGAAGTAGGGATGCCACCTGGAAGCATTGTTGAGTGGTAGAAGCTGTGAGGCATGGCCTGAGGTGCAAAGAGTCCTTGGCAAGCTGCTGGCCTGGAGGGAAATCTTAGGAACTGAGAGACCCCAGGCTTTAGCAGCTGGTGTCAGGGCCTCAACTGCCAAAAGCCACAACCCTGTTTTTCTTACAGATGGCTGTTTGTCTTGTGGCAGGAAAAACC... |
Task1_train_27810 | This mutation occurs in DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTG... | GGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTG... |
Task1_train_27811 | A genomic change on Chromosome 20 affects DNMT3B (DNA methyltransferase 3 beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGC... | GCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGC... |
Task1_train_27812 | Located on Chromosome 20, this mutation impacts DNMT3B (DNA methyltransferase 3 beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAG... | GGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAG... |
Task1_train_27813 | This gene mutation involves DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTG... | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTG... |
Task1_train_27814 | A mutation found in DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTG... | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTG... |
Task1_train_27815 | A variant was discovered on Chromosome 20, affecting DNMT3B (DNA methyltransferase 3 beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | CTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGAT... | CTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGAT... |
Task1_train_27816 | This variant lies on Chromosome 20 and affects the gene DNMT3B (DNA methyltransferase 3 beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCAT... | GAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCAT... |
Task1_train_27817 | This is a variant in DNMT3B (DNA methyltransferase 3 beta), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTT... | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTT... |
Task1_train_27818 | A variant affecting Chromosome 20, within the gene DNMT3B (DNA methyltransferase 3 beta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTT... | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTT... |
Task1_train_27819 | A variant on Chromosome 20 in gene SUN5 (Sad1 and UNC84 domain containing 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spermatogenic failure 16 | ACTCAGACTTGGTCTGGGGGTAAAGAATAAATTTTAATCTCTCTTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTG... | ACTCAGACTTGGTCTGGGGGTAAAGAATAAATTTTAATCTCTCTTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTG... |
Task1_train_27820 | Gene SUN5 (Sad1 and UNC84 domain containing 5) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Spermatogenic failure 16 | TTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTG... | TTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTG... |
Task1_train_27821 | Given this variant in gene SUN5 (Sad1 and UNC84 domain containing 5) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 16 | TTCACAGTGCTTAGGAAACGAAGTCCCTTTGAGGGAGGGCACCGCAAAACACAACAAGCAAGAGATCAAGGCCTTAGAACAGTGATTCTCTCTGGTATATGTCAGAACCACCTGGAAGGCTTGCTGGAACACAGATGATTGGTTTGCATCTTCAGAGCCTCTGATTCAGAAGGTCTGAGTGAGGCCTATTAATTCGAATTGTTAACATTTTCCCAGGTGATACTGATGATGCAGGCACGTGGGCCGTGGGCCGTACTTTGAGATCCATTACCCTAGAAGGGGTGGTGATGAGTCAATACTGTGCTTCAGCTGCACTTCAC... | TTCACAGTGCTTAGGAAACGAAGTCCCTTTGAGGGAGGGCACCGCAAAACACAACAAGCAAGAGATCAAGGCCTTAGAACAGTGATTCTCTCTGGTATATGTCAGAACCACCTGGAAGGCTTGCTGGAACACAGATGATTGGTTTGCATCTTCAGAGCCTCTGATTCAGAAGGTCTGAGTGAGGCCTATTAATTCGAATTGTTAACATTTTCCCAGGTGATACTGATGATGCAGGCACGTGGGCCGTGGGCCGTACTTTGAGATCCATTACCCTAGAAGGGGTGGTGATGAGTCAATACTGTGCTTCAGCTGCACTTCAC... |
Task1_train_27822 | A mutation in CHMP4B (charged multivesicular body protein 4B), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cataract 31 multiple types | CTGTGAATGTGAAGGTGGGGAAGCTGTGTCCCAGAGAGGGAAGCGGATTTGCCCTGTGTGACATGGGAGCTTGGTTAGAACTGGGATTAGAATCGGTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCT... | CTGTGAATGTGAAGGTGGGGAAGCTGTGTCCCAGAGAGGGAAGCGGATTTGCCCTGTGTGACATGGGAGCTTGGTTAGAACTGGGATTAGAATCGGTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCT... |
Task1_train_27823 | Here is a variant affecting CHMP4B (charged multivesicular body protein 4B) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cataract 31 multiple types | GTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCA... | GTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCA... |
Task1_train_27824 | Consider a variant on Chromosome 20 in gene PIGU (phosphatidylinositol glycan anchor biosynthesis class U). Determine its clinical classification and disease relevance. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 21 | TTGGTCTCTCAAAGAGCTGGGATCACATGCATGAGCCACCACACTCAGCCCATTCCATATTCTTCTATTTTGTTTGACTTCTTTCCCCCAGCAATAATGAATTCATGTATTACTTGATGATTTAAAATACATTTTAAAAAGAGATTAAGAAAAAAAAAGGTAAGAGATCATGCCAAGAGTCCAGCTGGTTTCTCTCAGCTATGAACACACTTGATCCACCTGCCTTTGGTTTCCATCCCTAACCCCAATCCCTCTTTCCAATAATTCAGTTTCTCCTGCCTTCAATGGCACCTGACCACTTGCAGACAACCCCCTGTGCT... | TTGGTCTCTCAAAGAGCTGGGATCACATGCATGAGCCACCACACTCAGCCCATTCCATATTCTTCTATTTTGTTTGACTTCTTTCCCCCAGCAATAATGAATTCATGTATTACTTGATGATTTAAAATACATTTTAAAAAGAGATTAAGAAAAAAAAAGGTAAGAGATCATGCCAAGAGTCCAGCTGGTTTCTCTCAGCTATGAACACACTTGATCCACCTGCCTTTGGTTTCCATCCCTAACCCCAATCCCTCTTTCCAATAATTCAGTTTCTCCTGCCTTCAATGGCACCTGACCACTTGCAGACAACCCCCTGTGCT... |
Task1_train_27825 | Here is a variant affecting PIGU (phosphatidylinositol glycan anchor biosynthesis class U) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 21 | ACAGTTTTATAGGCCCATTAAGGCCAAGTTAAGAACCCTCAGTCTAGATATTTTTTAAAATCTCTCTGGGGTCTAAAATTCTAGAATTCACCAGCTTCATCTGTCACTGATGACCAGTGACACAGAAAGCACACTGCTATTTCTGGTTTCATTAGTAACAAAAGCTAAAATGAACCACAAACAGACAATGCCAATGAGATGCAGCCTTATTTCACCCCAGCCTAAATCTTCTCTCTCAGTGGCTCCCAGCCAATCAAGGAGTGTTGTAGCCATTTAACTACATGGGTAGTACACATGGTTAATCTGTTAACTTTCTCAGA... | ACAGTTTTATAGGCCCATTAAGGCCAAGTTAAGAACCCTCAGTCTAGATATTTTTTAAAATCTCTCTGGGGTCTAAAATTCTAGAATTCACCAGCTTCATCTGTCACTGATGACCAGTGACACAGAAAGCACACTGCTATTTCTGGTTTCATTAGTAACAAAAGCTAAAATGAACCACAAACAGACAATGCCAATGAGATGCAGCCTTATTTCACCCCAGCCTAAATCTTCTCTCTCAGTGGCTCCCAGCCAATCAAGGAGTGTTGTAGCCATTTAACTACATGGGTAGTACACATGGTTAATCTGTTAACTTTCTCAGA... |
Task1_train_27826 | A genetic alteration is present in ACSS2, LOC126863018 (acyl-CoA synthetase short chain family member 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGAGGCCCAGGGTGAGACAGTTCAGGTGGAGGGTTTTCATACAGCTGACATGGATGTTCTTTCCCTATGCACCCATGGTTTGGTTGAAGGAGAGCTATTCTGTTAACTCAAGGCCAAGGGTGGGCACAGAGATCCCTCTCAGGCTTCTAAGACCATAACTCTTAGAGTTCAATTCCTTCCACCTGGCACACTATTAACATGTAGTCCTCTGCCAGCACACACCATGGGAGCCGGAAACACTTAAGAAAACTGTTTCTTCCATTGACTTGAAAGCTATGTCACTCTACCTTCTGCCCACTCCACCCCTAAATTATCTCCAT... | TGAGGCCCAGGGTGAGACAGTTCAGGTGGAGGGTTTTCATACAGCTGACATGGATGTTCTTTCCCTATGCACCCATGGTTTGGTTGAAGGAGAGCTATTCTGTTAACTCAAGGCCAAGGGTGGGCACAGAGATCCCTCTCAGGCTTCTAAGACCATAACTCTTAGAGTTCAATTCCTTCCACCTGGCACACTATTAACATGTAGTCCTCTGCCAGCACACACCATGGGAGCCGGAAACACTTAAGAAAACTGTTTCTTCCATTGACTTGAAAGCTATGTCACTCTACCTTCTGCCCACTCCACCCCTAAATTATCTCCAT... |
Task1_train_27827 | This alteration occurs within gene GSS (glutathione synthetase) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Inherited glutathione synthetase deficiency | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCC... | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCC... |
Task1_train_27828 | The gene GSS (glutathione synthetase) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCC... | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCC... |
Task1_train_27829 | This variant affects gene GSS (glutathione synthetase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... |
Task1_train_27830 | A genetic alteration is present in GSS (glutathione synthetase) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... |
Task1_train_27831 | This mutation is located in gene GSS (glutathione synthetase) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glutathione synthetase deficiency without 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAA... |
Task1_train_27832 | Gene GSS (glutathione synthetase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... |
Task1_train_27833 | Gene GSS (glutathione synthetase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glutathione synthetase deficiency without 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... |
Task1_train_27834 | Consider this mutation in GSS (glutathione synthetase) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Inherited glutathione synthetase deficiency | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... |
Task1_train_27835 | A change on Chromosome 20 affects gene GSS (glutathione synthetase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCA... |
Task1_train_27836 | This variant affects gene GSS (glutathione synthetase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... |
Task1_train_27837 | This sequence variant lies in GSS (glutathione synthetase) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... |
Task1_train_27838 | A variant was discovered in gene GSS (glutathione synthetase), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inherited glutathione synthetase deficiency | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGAT... |
Task1_train_27839 | Here’s a variant in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GGACACGCAGCCCAGGAAATAATACCTGTGGGAGTCAGCCCCACCTGTGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTC... | GGACACGCAGCCCAGGAAATAATACCTGTGGGAGTCAGCCCCACCTGTGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTC... |
Task1_train_27840 | A mutation in GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple synostoses syndrome 2 | TGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCC... | TGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCC... |
Task1_train_27841 | Here is a genetic alteration in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGA... | GCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGA... |
Task1_train_27842 | Here is a genetic alteration in GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Acromesomelic dysplasia 2B | CTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGT... | CTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGT... |
Task1_train_27843 | Located on Chromosome 20, this mutation impacts GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Brachydactyly type A1C | GGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCAT... | GGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCAT... |
Task1_train_27844 | The following genetic variant occurs in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Acromesomelic dysplasia 2B | CAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCC... | CAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCC... |
Task1_train_27845 | Gene GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Symphalangism, proximal, 1B | CCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTG... | CCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTG... |
Task1_train_27846 | The gene GDF5 (growth differentiation factor 5), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Brachydactyly type C | TTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTG... | TTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTG... |
Task1_train_27847 | Consider this mutation in EPB41L1 (erythrocyte membrane protein band 4.1 like 1) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 11 | AGAAGAGGGAAGCAGAAATTGTGTGTTTGCTTATTTGTTTGTTCACTGAGCAGATGTTAGTGAGTGTCAACTTTGTGTTAGCCTCTGTGCCAGGGCTGCTGGATGTAGCAGTAAGTGAGGCCTGTTTATGGGACATGAGAAGCACATGTAGGGGGTGTAACTGGGAAATTAGGTTGCACTGGGGGCAGGGAGGTGGAATATAGAGCAAATAACAAATACCAGGACACATTTGACTCTGGAGGATCTGGGCCTCAGGGAGATTGGAAAGCCATGAAGGTTTTTAGATTGGAGAGTAACCCAGTGAACATAGGTTTAAGGAG... | AGAAGAGGGAAGCAGAAATTGTGTGTTTGCTTATTTGTTTGTTCACTGAGCAGATGTTAGTGAGTGTCAACTTTGTGTTAGCCTCTGTGCCAGGGCTGCTGGATGTAGCAGTAAGTGAGGCCTGTTTATGGGACATGAGAAGCACATGTAGGGGGTGTAACTGGGAAATTAGGTTGCACTGGGGGCAGGGAGGTGGAATATAGAGCAAATAACAAATACCAGGACACATTTGACTCTGGAGGATCTGGGCCTCAGGGAGATTGGAAAGCCATGAAGGTTTTTAGATTGGAGAGTAACCCAGTGAACATAGGTTTAAGGAG... |
Task1_train_27848 | Here is a mutation in SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not specified | CTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCTGGAGTTTGAAACCAGCTTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAACACAAAATTAGTTGGGCATGGTAGCAAGTGCCTGTACTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACTCAGGAGGCGGAGGTTGCAGTGACCTGAGGTTGTGCCACTGCCCTCTAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAAATAAATAAATAAATAATATAAAATCTAATAATAAACTAACAATGCTTGAATTCATGCATTAAAACAGTACTAT... | CTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCTGGAGTTTGAAACCAGCTTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAACACAAAATTAGTTGGGCATGGTAGCAAGTGCCTGTACTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACTCAGGAGGCGGAGGTTGCAGTGACCTGAGGTTGTGCCACTGCCCTCTAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAAATAAATAAATAAATAATATAAAATCTAATAATAAACTAACAATGCTTGAATTCATGCATTAAAACAGTACTAT... |
Task1_train_27849 | A variant on Chromosome 20 in gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Aicardi-Goutieres syndrome 5 | TGAATGAACATTTGAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATT... | TGAATGAACATTTGAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATT... |
Task1_train_27850 | This genomic variant is located on Chromosome 20, within the CTNNBL1 (catenin beta like 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | AAGTCCCCACACCGAGTTCTCACTCCTGAGAGCTCATAGCCCAAACCAGATGTCTGACTGGATGCAATCGTTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAACCTAGGAGCTCAAAGAACAGCCGAGGCAACATAGTGAGACCCTGTCTCTACACACACAAAAAAGTTTTAATTAGCTGAGTGTGGTGGCATGCACCTGTAGTCCTAGCTATTTGAGAGGCTAAGGTGGGAGGATCACTGGAGCCCAGAAAGTCGAGACTGCAATGAGCTGTCATTATGCCACTGCACTCCAGACTGG... | AAGTCCCCACACCGAGTTCTCACTCCTGAGAGCTCATAGCCCAAACCAGATGTCTGACTGGATGCAATCGTTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAACCTAGGAGCTCAAAGAACAGCCGAGGCAACATAGTGAGACCCTGTCTCTACACACACAAAAAAGTTTTAATTAGCTGAGTGTGGTGGCATGCACCTGTAGTCCTAGCTATTTGAGAGGCTAAGGTGGGAGGATCACTGGAGCCCAGAAAGTCGAGACTGCAATGAGCTGTCATTATGCCACTGCACTCCAGACTGG... |
Task1_train_27851 | This sequence change occurs on Chromosome 20, altering TTI1 (TELO2 interacting protein 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | ACACTTGAACGGAATGTGCTGGAGCAAACAAAGGGAGCTGCGGTCAAGTGGTGGGGCTGCGTGTTCCTCCACCTGAGGCTCCCTGAACACCAGCTCAAGATTCAGCAAGGTCCAATTCCGGGTTTAATTGCTTTCAGCAGCAAAAAAGAGAACTAGAAATGAAAAGATAATGAATTGAGAATATTAGCTTATTTGATGGTTCTAAACTTGAAGGATGGGATGGAGTGGGTGTAGGAAAAATAGAATGGATGGGGAATGTGAAAATCAGACCTTTAACTCTTGGTTGTAATAGGCATCTAAAAGGATTTACTTCAAGATAA... | ACACTTGAACGGAATGTGCTGGAGCAAACAAAGGGAGCTGCGGTCAAGTGGTGGGGCTGCGTGTTCCTCCACCTGAGGCTCCCTGAACACCAGCTCAAGATTCAGCAAGGTCCAATTCCGGGTTTAATTGCTTTCAGCAGCAAAAAAGAGAACTAGAAATGAAAAGATAATGAATTGAGAATATTAGCTTATTTGATGGTTCTAAACTTGAAGGATGGGATGGAGTGGGTGTAGGAAAAATAGAATGGATGGGGAATGTGAAAATCAGACCTTTAACTCTTGGTTGTAATAGGCATCTAAAAGGATTTACTTCAAGATAA... |
Task1_train_27852 | A mutation on Chromosome 20 affecting TTI1 (TELO2 interacting protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | CCCCTTCTTCCTTCTGGGCCTTCCCACCTGAATTTTTATTTATTTATTTTTTTTTTTGAGACAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCCTGACCTCCCTGGGCTTAGGTGATGCTTCTACCTCCCAAGTAGCTGGAATTACAGGCATGTACCGCCACTCCCAACTAATTTTTTTCCATTTTTAGTAGAGACGAGGCCATACTAGGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCAGCCTCCCAAAGTGTTGAGATTACAGGTGTGAGC... | CCCCTTCTTCCTTCTGGGCCTTCCCACCTGAATTTTTATTTATTTATTTTTTTTTTTGAGACAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCCTGACCTCCCTGGGCTTAGGTGATGCTTCTACCTCCCAAGTAGCTGGAATTACAGGCATGTACCGCCACTCCCAACTAATTTTTTTCCATTTTTAGTAGAGACGAGGCCATACTAGGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCAGCCTCCCAAAGTGTTGAGATTACAGGTGTGAGC... |
Task1_train_27853 | A mutation on Chromosome 20 affecting TTI1 (TELO2 interacting protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | TTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTAT... | TTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTAT... |
Task1_train_27854 | This gene mutation involves MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | GCGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGA... | GCGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGA... |
Task1_train_27855 | This variant affects the gene MAFB (MAF bZIP transcription factor B) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGAC... | CGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGAC... |
Task1_train_27856 | A genetic alteration is present in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | AGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAA... | AGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAA... |
Task1_train_27857 | A mutation found in MAFB (MAF bZIP transcription factor B) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATG... | GACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATG... |
Task1_train_27858 | This mutation occurs in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCC... | CCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCC... |
Task1_train_27859 | The following genetic variant occurs in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCC... | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCC... |
Task1_train_27860 | This sequence variant lies in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCC... | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCC... |
Task1_train_27861 | Gene MAFB (MAF bZIP transcription factor B), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTC... | AAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTC... |
Task1_train_27862 | Chromosome 20 houses a mutation in gene PLCG1-AS1, TOP1 (PLCG1 antisense RNA 1| DNA topoisomerase I). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; DNA topoisomerase I, camptothecin-resistant | GTGTCTCAGGTAAATCTTATCCTCAATATTCCAAGTTAGTGAAATTTAGTATATTATTTACTTCAGGGGCATTTTGAAACTTAAAAGATCACTTTGGAGCTTTGTTCTTAGAATATTGATCCAAAGATAGATTTTATAAACATCCCCTTGTCAGAGCCTCTGCCAAGGACACCTGCTGCCAGCAAGGTCTGAATCTGTTCCCACCCACAAGGCAGCACAACTTAGTTAAACTGAATCAATAAGTATATAAAACGCAGAGTCAATAGAGGGTAAGGAGGCTCAAAATCTCCCCCACCATCCCTCACCTTTTTGGAGCAAGG... | GTGTCTCAGGTAAATCTTATCCTCAATATTCCAAGTTAGTGAAATTTAGTATATTATTTACTTCAGGGGCATTTTGAAACTTAAAAGATCACTTTGGAGCTTTGTTCTTAGAATATTGATCCAAAGATAGATTTTATAAACATCCCCTTGTCAGAGCCTCTGCCAAGGACACCTGCTGCCAGCAAGGTCTGAATCTGTTCCCACCCACAAGGCAGCACAACTTAGTTAAACTGAATCAATAAGTATATAAAACGCAGAGTCAATAGAGGGTAAGGAGGCTCAAAATCTCCCCCACCATCCCTCACCTTTTTGGAGCAAGG... |
Task1_train_27863 | A mutation in IFT52 (intraflagellar transport 52), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Short-rib thoracic dysplasia 16 with or without polydactyly | AAGGAAGGAAAAGGAAGATGAATTTAGGGAGAGATTCAGTCTGTTGTTCAGGGTCCAGGATCATGCAGTTATAACCCATTTGTTTTGTTTTTCTGTTGTTGTTCCAAAAAATGTTTACTAAGGATCTGTTACACACCTAGTAACAGGTCCTAGGACTAACGCTAGGGATCAAAGTCAAATAGCACATGATCTCTCCACTCAAGGAACCGATAGTCTAGGGGAAATGACACAAATGGACCATCTACCAATAATGATCAATGTTCTAAGTTCCACATTTCTACAGAAACACAGAAAAGAGGCATTGGATTATTGGGTCCAGA... | AAGGAAGGAAAAGGAAGATGAATTTAGGGAGAGATTCAGTCTGTTGTTCAGGGTCCAGGATCATGCAGTTATAACCCATTTGTTTTGTTTTTCTGTTGTTGTTCCAAAAAATGTTTACTAAGGATCTGTTACACACCTAGTAACAGGTCCTAGGACTAACGCTAGGGATCAAAGTCAAATAGCACATGATCTCTCCACTCAAGGAACCGATAGTCTAGGGGAAATGACACAAATGGACCATCTACCAATAATGATCAATGTTCTAAGTTCCACATTTCTACAGAAACACAGAAAAGAGGCATTGGATTATTGGGTCCAGA... |
Task1_train_27864 | This alteration occurs within gene IFT52 (intraflagellar transport 52) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Short-rib thoracic dysplasia 16 with or without polydactyly | GTACAAAAAGTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGGGAATTGCCTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAAACTCCATCTCGAAAAATAATAATAATAATAATAATAGCAGATAGTTTTTATCTTGCTACTCAAGTGTCCGTTCTCCCTTATGCCTTGAGAATCATCTTCCATTGATTGCATTTTGGGAAAATGTGGGGGATAGATGTGCATTGACCTCCATATGACTATTTCTCCCACCTA... | GTACAAAAAGTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGGGAATTGCCTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAAACTCCATCTCGAAAAATAATAATAATAATAATAATAGCAGATAGTTTTTATCTTGCTACTCAAGTGTCCGTTCTCCCTTATGCCTTGAGAATCATCTTCCATTGATTGCATTTTGGGAAAATGTGGGGGATAGATGTGCATTGACCTCCATATGACTATTTCTCCCACCTA... |
Task1_train_27865 | The gene JPH2 (junctophilin 2) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 17 | GTAGAGGTTAAGTGAGTGGCAAAGGAACCAGTATGAACAAAAGCTCTGTGGCAGGAGGAACTAAAGAAGGAAGAACTAGCACAGAGGGAAGAAAACTCCAGGCTCAGGGAAAGAATGACAAAAAATAAGGCTGGGTAGGAGGGTGGGAACCTGATTAGAAAAGGCCACTCACTAACTGAGTGATTTTGGACAAGTCACCTTATCTCTCTGAGCCTCACTTAGCTCATCTGCAAAACAGAAATAAACACAGTACCTATCATAAGGTTGTTAAAGGGACTGAGTGAGTCCATATTTGTGAACCACTTAAAATTGCCTTGTAC... | GTAGAGGTTAAGTGAGTGGCAAAGGAACCAGTATGAACAAAAGCTCTGTGGCAGGAGGAACTAAAGAAGGAAGAACTAGCACAGAGGGAAGAAAACTCCAGGCTCAGGGAAAGAATGACAAAAAATAAGGCTGGGTAGGAGGGTGGGAACCTGATTAGAAAAGGCCACTCACTAACTGAGTGATTTTGGACAAGTCACCTTATCTCTCTGAGCCTCACTTAGCTCATCTGCAAAACAGAAATAAACACAGTACCTATCATAAGGTTGTTAAAGGGACTGAGTGAGTCCATATTTGTGAACCACTTAAAATTGCCTTGTAC... |
Task1_train_27866 | A mutation in JPH2 (junctophilin 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy 17 | CACGACCTATGGTTTGCTAGGCCCTAATTTAAAGCAACTTTTTAAACTTTGATGTTATAAAAATTGCCTGATACACTTGTGAAAGCAGTGTTTGGACACACACTCAGAGATTCTGATGAGAAGGTCTGGGTGGGCCACTGAATTTGCATTTCTAACTGGTGGATCAATGGTGCTGATGCTGCCCGTCCACCGTCCACATTTTGAGCAGTACTGATATTCTAAAGTGTCCCTTTTCACAGATGAGGAAACTGGCTTAGCTAAGTGATATGTCCATGTACACCCTGTGGACTAGGTAATGACATCTGCTCTGCCACTCCACA... | CACGACCTATGGTTTGCTAGGCCCTAATTTAAAGCAACTTTTTAAACTTTGATGTTATAAAAATTGCCTGATACACTTGTGAAAGCAGTGTTTGGACACACACTCAGAGATTCTGATGAGAAGGTCTGGGTGGGCCACTGAATTTGCATTTCTAACTGGTGGATCAATGGTGCTGATGCTGCCCGTCCACCGTCCACATTTTGAGCAGTACTGATATTCTAAAGTGTCCCTTTTCACAGATGAGGAAACTGGCTTAGCTAAGTGATATGTCCATGTACACCCTGTGGACTAGGTAATGACATCTGCTCTGCCACTCCACA... |
Task1_train_27867 | A variant found in Chromosome 20 affects HNF4A (hepatocyte nuclear factor 4 alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Monogenic diabetes | GGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAA... | GGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAA... |
Task1_train_27868 | Located on Chromosome 20, this mutation impacts HNF4A (hepatocyte nuclear factor 4 alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Maturity-onset diabetes of the young type 1 | GGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCC... | GGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCC... |
Task1_train_27869 | This variant impacts the gene HNF4A (hepatocyte nuclear factor 4 alpha) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Monogenic diabetes | TGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATG... | TGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATG... |
Task1_train_27870 | Gene HNF4A (hepatocyte nuclear factor 4 alpha) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Monogenic diabetes | ACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTG... | ACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTG... |
Task1_train_27871 | This genomic variant is located on Chromosome 20, within the HNF4A (hepatocyte nuclear factor 4 alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Monogenic diabetes | CCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAA... | CCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAA... |
Task1_train_27872 | This variant affects gene ADA (adenosine deaminase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | AGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGAC... | AGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGAC... |
Task1_train_27873 | A change on Chromosome 20 affects gene ADA (adenosine deaminase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | CAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGG... | CAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGG... |
Task1_train_27874 | This mutation is located in gene ADA (adenosine deaminase) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe combined immunodeficiency disease | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTA... | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTA... |
Task1_train_27875 | A variant was discovered in gene ADA (adenosine deaminase), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTA... | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTA... |
Task1_train_27876 | Located on Chromosome 20, this mutation impacts ADA (adenosine deaminase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | CTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTT... | CTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTT... |
Task1_train_27877 | Gene ADA (adenosine deaminase) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... |
Task1_train_27878 | With a mutation on Chromosome 20 in gene ADA (adenosine deaminase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe combined immunodeficiency disease | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... |
Task1_train_27879 | This mutation is located in gene ADA (adenosine deaminase) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACC... |
Task1_train_27880 | The gene ADA (adenosine deaminase), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | CTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGG... | CTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGG... |
Task1_train_27881 | Given this variant in gene PABPC1L (poly(A) binding protein cytoplasmic 1 like) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Female infertility due to zona pellucida defect | ATAGAAGGAAATGCTAATATGAAAATAAAGATGTCACTTTTTCCCCAATCCATGCAATTTCCCCCTAAATTGTATCCATGACCTACCTGAGGGGGATCCATGGACTCTCAGGTTAAGACCCCTCTACTGAAGGGTAGCAGAGTACAGTTTCAAAATTACTGATTAAGAGCGTGGGCTCACCAGGAGTTCAAGCCCAGCCGGGGCAACAGGATGAGACCTCATCTTTACAAAAAATGAACAAAATTAGGCATGGTGGTGCTTGTCTGCAGTCCCAGCTACTTGGGAGACTGAGTTGAGAGGATCACTTGAGGCTGAGAGGT... | ATAGAAGGAAATGCTAATATGAAAATAAAGATGTCACTTTTTCCCCAATCCATGCAATTTCCCCCTAAATTGTATCCATGACCTACCTGAGGGGGATCCATGGACTCTCAGGTTAAGACCCCTCTACTGAAGGGTAGCAGAGTACAGTTTCAAAATTACTGATTAAGAGCGTGGGCTCACCAGGAGTTCAAGCCCAGCCGGGGCAACAGGATGAGACCTCATCTTTACAAAAAATGAACAAAATTAGGCATGGTGGTGCTTGTCTGCAGTCCCAGCTACTTGGGAGACTGAGTTGAGAGGATCACTTGAGGCTGAGAGGT... |
Task1_train_27882 | This variant affects the gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 3 | CCTCTTAATCCCACTATAAGAAATCAATAGTGCAAGTATGATATAACAAGTTTTAGGGCAATAAAAAGGAGCAGCAGGAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCAC... | CCTCTTAATCCCACTATAAGAAATCAATAGTGCAAGTATGATATAACAAGTTTTAGGGCAATAAAAAGGAGCAGCAGGAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCAC... |
Task1_train_27883 | The gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 3 | TTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCC... | TTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCC... |
Task1_train_27884 | With a mutation on Chromosome 20 in gene TNNC2 (troponin C2, fast skeletal type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myopathy 15 | GTACCAAGGGCTTGAAAATGCACCCCAGGTCCATATCAGGAATACATTGCCCAGTGTGGCTGCAGCCCTGTGAGGACTATGGGAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAAGGAATTTGGATCTCATTGTAGAAGCAGTGAGGAGCCTTGAACTACTTTCAACAGGGCAGTGGCCAAGTCAGATATTTTAGCTCGCTGCTGCTGATGGCCCTCTGTAGAGCGCACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCA... | GTACCAAGGGCTTGAAAATGCACCCCAGGTCCATATCAGGAATACATTGCCCAGTGTGGCTGCAGCCCTGTGAGGACTATGGGAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAAGGAATTTGGATCTCATTGTAGAAGCAGTGAGGAGCCTTGAACTACTTTCAACAGGGCAGTGGCCAAGTCAGATATTTTAGCTCGCTGCTGCTGATGGCCCTCTGTAGAGCGCACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCA... |
Task1_train_27885 | A variant on Chromosome 20 in gene TNNC2 (troponin C2, fast skeletal type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myopathy 15 | CACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCT... | CACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCT... |
Task1_train_27886 | The following genetic variant occurs in CTSA (cathepsin A) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | TGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCC... | TGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCC... |
Task1_train_27887 | A variant was discovered in gene CTSA (cathepsin A), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | AAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTT... | AAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTT... |
Task1_train_27888 | The following genetic variant occurs in CTSA (cathepsin A) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | ATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGA... | ATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGA... |
Task1_train_27889 | This mutation occurs in CTSA (cathepsin A) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | CAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGC... | CAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGC... |
Task1_train_27890 | A genomic change on Chromosome 20 affects CTSA (cathepsin A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Galactosialidosis, early infantile | TGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGG... | TGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGG... |
Task1_train_27891 | The gene CTSA (cathepsin A), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | CTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTAT... | CTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTAT... |
Task1_train_27892 | Gene CTSA (cathepsin A) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC... | CTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC... |
Task1_train_27893 | This is a variant in CTSA (cathepsin A), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Galactosialidosis, late infantile | CAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATAC... | CAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATAC... |
Task1_train_27894 | This genomic variant is located on Chromosome 20, within the CTSA (cathepsin A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | AAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCT... | AAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCT... |
Task1_train_27895 | Gene CTSA (cathepsin A) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Galactosialidosis, late infantile | CTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACT... | CTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACT... |
Task1_train_27896 | This genomic variant is located on Chromosome 20, within the ZNF335 (zinc finger protein 335) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAAT... | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAAT... |
Task1_train_27897 | A mutation in ZNF335 (zinc finger protein 335), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAAT... | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAAT... |
Task1_train_27898 | The gene ZNF335 (zinc finger protein 335), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | GTGAACCTACACTAATCTTACTTAGCCACAGAACCTTTTTTTTTTTTTTTTTTCATTTAAAAAAAAGAAACCTTAAAGTATCTTGGGCTGGCTTTTCCACACACACAGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACT... | GTGAACCTACACTAATCTTACTTAGCCACAGAACCTTTTTTTTTTTTTTTTTTCATTTAAAAAAAAGAAACCTTAAAGTATCTTGGGCTGGCTTTTCCACACACACAGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACT... |
Task1_train_27899 | A variant was discovered on Chromosome 20, affecting ZNF335 (zinc finger protein 335). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | AGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAG... | AGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAG... |
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