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_13300 | A variant affecting Chromosome 9, within the gene SET (SET nuclear proto-oncogene), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 58 | CCCCCCTCCCTCGCTCTCCTCCCCCTCCCTCCCTCCCGAGAAGCCTCTCTTTATTGTGCTCCGCCATGATGCCTCGCTCCCATCAGCCGCCGCCGCCGCCACATGGTGCGGCCGGACGCGGCCCCGCGCCCGACCTCCCGCGCGGTTCCGCTTCGCGCCCGGCCCGCGGCGGCGCCCCCGGCACCCCCGCCCAGAGGCTGGCCCCGGCGGGGCTTCTGCCTGGAGCTCGGGTGGGGTGGGGGCGCGGGGAACACGCGGGCGGCCGCGCGCTGGGCCTTGGCCGGCCGGGAGGATGCTCTGGCCAGCCCGGGCGCACTCCC... | CCCCCCTCCCTCGCTCTCCTCCCCCTCCCTCCCTCCCGAGAAGCCTCTCTTTATTGTGCTCCGCCATGATGCCTCGCTCCCATCAGCCGCCGCCGCCGCCACATGGTGCGGCCGGACGCGGCCCCGCGCCCGACCTCCCGCGCGGTTCCGCTTCGCGCCCGGCCCGCGGCGGCGCCCCCGGCACCCCCGCCCAGAGGCTGGCCCCGGCGGGGCTTCTGCCTGGAGCTCGGGTGGGGTGGGGGCGCGGGGAACACGCGGGCGGCCGCGCGCTGGGCCTTGGCCGGCCGGGAGGATGCTCTGGCCAGCCCGGGCGCACTCCC... |
Task1_train_13301 | This variant affects gene DOLK (dolichol kinase) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; DK1-congenital disorder of glycosylation | TCCATTCACTATCTGTGTAGTGTACAATTCTGGGAGGGACACAGTGCAGATGGACTCCCAAATCTACTGATTTCCTGCTCCTTGTCAGTGCCCTGTGCTAGCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTG... | TCCATTCACTATCTGTGTAGTGTACAATTCTGGGAGGGACACAGTGCAGATGGACTCCCAAATCTACTGATTTCCTGCTCCTTGTCAGTGCCCTGTGCTAGCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTG... |
Task1_train_13302 | This mutation occurs in DOLK (dolichol kinase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; DK1-congenital disorder of glycosylation | GCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCT... | GCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCT... |
Task1_train_13303 | A variant affecting Chromosome 9, within the gene DOLK (dolichol kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; DK1-congenital disorder of glycosylation | ATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCC... | ATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCC... |
Task1_train_13304 | This sequence variant lies in DOLK (dolichol kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; DK1-congenital disorder of glycosylation | TACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTC... | TACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTC... |
Task1_train_13305 | A genetic alteration is present in DOLK (dolichol kinase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DK1-congenital disorder of glycosylation | GGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAA... | GGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAA... |
Task1_train_13306 | A genomic change on Chromosome 9 affects TOR1A (torsin family 1 member A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Early-onset generalized limb-onset dystonia | TAGTGAGCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCA... | TAGTGAGCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCA... |
Task1_train_13307 | The gene TOR1A (torsin family 1 member A), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Arthrogryposis multiplex congenita 5 | GCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACT... | GCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACT... |
Task1_train_13308 | A variant was discovered in gene TOR1A (torsin family 1 member A), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; TOR1A-related disorder | CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATT... | CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATT... |
Task1_train_13309 | This variant lies on Chromosome 9 and affects the gene TOR1A (torsin family 1 member A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonic disorder | CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATT... | CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATT... |
Task1_train_13310 | Mutation context: Chromosome 9, Gene ASS1 (argininosuccinate synthase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Citrullinemia | CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACC... | CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACC... |
Task1_train_13311 | A variant was discovered in gene ASS1 (argininosuccinate synthase 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Citrullinemia type I | CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACC... | CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACC... |
Task1_train_13312 | A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Citrullinemia type I | ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAG... | ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAG... |
Task1_train_13313 | Chromosome 9 houses a mutation in gene ASS1 (argininosuccinate synthase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Citrullinemia | ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAG... | ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAG... |
Task1_train_13314 | Gene ASS1 (argininosuccinate synthase 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... |
Task1_train_13315 | A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Citrullinemia type I | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... |
Task1_train_13316 | This genomic variant is located on Chromosome 9, within the ASS1 (argininosuccinate synthase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Citrullinemia | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... | CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC... |
Task1_train_13317 | Here is a variant affecting ASS1 (argininosuccinate synthase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Citrullinemia | GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGA... | GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGA... |
Task1_train_13318 | Consider a variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1). Determine its clinical classification and disease relevance. | Pathogenic; Citrullinemia type I | GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGA... | GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGA... |
Task1_train_13319 | With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Citrullinemia | TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAG... | TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAG... |
Task1_train_13320 | Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Citrullinemia type I | TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAG... | TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAG... |
Task1_train_13321 | A sequence alteration has been identified in ASS1 (argininosuccinate synthase 1) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Citrullinemia type I | AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATA... | AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATA... |
Task1_train_13322 | Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Citrullinemia | AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATA... | AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATA... |
Task1_train_13323 | With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Citrullinemia | CAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTT... | CAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTT... |
Task1_train_13324 | This is a variant in ASS1 (argininosuccinate synthase 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Citrullinemia type I | GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGT... | GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGT... |
Task1_train_13325 | This variant affects the gene ASS1 (argininosuccinate synthase 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Citrullinemia | GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGT... | GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGT... |
Task1_train_13326 | With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Citrullinemia type I | GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCA... | GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCA... |
Task1_train_13327 | The gene ASS1 (argininosuccinate synthase 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Citrullinemia | GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCA... | GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCA... |
Task1_train_13328 | A variant was discovered on Chromosome 9, affecting ASS1 (argininosuccinate synthase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Citrullinemia | GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACC... | GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACC... |
Task1_train_13329 | With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Citrullinemia type I | GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACC... | GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACC... |
Task1_train_13330 | Here’s a variant in ASS1 (argininosuccinate synthase 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Citrullinemia type I | GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCG... | GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCG... |
Task1_train_13331 | Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Citrullinemia | GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCG... | GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCG... |
Task1_train_13332 | Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Citrullinemia type I | GGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAG... | GGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAG... |
Task1_train_13333 | Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Citrullinemia | CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACA... | CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACA... |
Task1_train_13334 | A variant found in Chromosome 9 affects ASS1 (argininosuccinate synthase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Citrullinemia type I | CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACA... | CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACA... |
Task1_train_13335 | The variant affects gene ASS1 (argininosuccinate synthase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTT... | GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTT... |
Task1_train_13336 | This alteration occurs within gene ASS1 (argininosuccinate synthase 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Citrullinemia | GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTT... | GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTT... |
Task1_train_13337 | A genomic change on Chromosome 9 affects ASS1 (argininosuccinate synthase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Citrullinemia | AGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTT... | AGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTT... |
Task1_train_13338 | A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Citrullinemia | TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGG... | TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGG... |
Task1_train_13339 | Here is a mutation in ASS1 (argininosuccinate synthase 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Citrullinemia type I | TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGG... | TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGG... |
Task1_train_13340 | This mutation is located in gene PRDM12 (PR/SET domain 12) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome | ACGCCAGGTGTGAGACCCTCTTAGCCAAGGCGCGTCCGGGTGGTGGAGGGGCGTCTATGCCAACAGGCGTTTGGACAGGGTCTCGCTCATGGGAGGTCAGCTCGCTGTTCTTCCACCCAAGTCCTCCGCGCTGAGGAGAAGGTCTAGGGAGTCCACACAGTCCAGCGGAGACTAATCCGTGAGCCTGACCCACGCCGAGAGGGTCCAGGCACCTCTGTTAGCGGCATCTGAAATTGTAGGCTGGTGATGGGAGCCAGAAGTGCGGCAGGTGGGGTGAGCTCCCTCACCCAGCATGTCAGGGCCTGGGGTCCGAGGCTTGA... | ACGCCAGGTGTGAGACCCTCTTAGCCAAGGCGCGTCCGGGTGGTGGAGGGGCGTCTATGCCAACAGGCGTTTGGACAGGGTCTCGCTCATGGGAGGTCAGCTCGCTGTTCTTCCACCCAAGTCCTCCGCGCTGAGGAGAAGGTCTAGGGAGTCCACACAGTCCAGCGGAGACTAATCCGTGAGCCTGACCCACGCCGAGAGGGTCCAGGCACCTCTGTTAGCGGCATCTGAAATTGTAGGCTGGTGATGGGAGCCAGAAGTGCGGCAGGTGGGGTGAGCTCCCTCACCCAGCATGTCAGGGCCTGGGGTCCGAGGCTTGA... |
Task1_train_13341 | Located on Chromosome 9, this mutation impacts LOC126860775, PRDM12 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:133541982-133543181| PR/SET domain 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome | CTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCGACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGG... | CTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCGACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGG... |
Task1_train_13342 | A genetic alteration is present in PRDM12 (PR/SET domain 12) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome | TCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCG... | TCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCG... |
Task1_train_13343 | This variant affects the gene PRDM12 (PR/SET domain 12) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome | TATTTTTTTTCTTTTTCTTTCTTTCTTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTTTCACTCTGTCACCCAGGCTGGAACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCAC... | TATTTTTTTTCTTTTTCTTTCTTTCTTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTTTCACTCTGTCACCCAGGCTGGAACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCAC... |
Task1_train_13344 | Given this variant in gene PRDM12 (PR/SET domain 12) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome | AACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACC... | AACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACC... |
Task1_train_13345 | This is a variant in EXOSC2 (exosome component 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CTAATTTTTGTATTTTTAGTAGAGACAGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCATGCCTGGCCTCTGTCTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGGGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG... | CTAATTTTTGTATTTTTAGTAGAGACAGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCATGCCTGGCCTCTGTCTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGGGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG... |
Task1_train_13346 | A variant was discovered on Chromosome 9, affecting ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leukemia, Philadelphia chromosome-positive, resistant to imatinib | GTCCCGCTCCGTTTTCTTTGTGTGCAGCACTTGTGTTGGTGACCAGCAGTGAAGAGAGTGCGTGGACGTCACCGTGTGGTTATGAAGCTAACGGCAGCCCTCAGCGGTGCCGACTTCCGCTCCCCGACACATTCCTGTGTGCACGTTCGTGGGTCTGAGCGTGACTCATGGTGTGTGTCCCTAGAGCAGTTCACTCAGAGGCTTCTCTTCCGTGCTCTCAAGAATAAAAGCAGGGCCGCCACATCCTGATAAGTCTTGCCATTCAGCGGTCCTGTCTTGCAGAGGGATAAGCCAGTGTCCCCAGGCCACAGTCCTTACAC... | GTCCCGCTCCGTTTTCTTTGTGTGCAGCACTTGTGTTGGTGACCAGCAGTGAAGAGAGTGCGTGGACGTCACCGTGTGGTTATGAAGCTAACGGCAGCCCTCAGCGGTGCCGACTTCCGCTCCCCGACACATTCCTGTGTGCACGTTCGTGGGTCTGAGCGTGACTCATGGTGTGTGTCCCTAGAGCAGTTCACTCAGAGGCTTCTCTTCCGTGCTCTCAAGAATAAAAGCAGGGCCGCCACATCCTGATAAGTCTTGCCATTCAGCGGTCCTGTCTTGCAGAGGGATAAGCCAGTGTCCCCAGGCCACAGTCCTTACAC... |
Task1_train_13347 | This sequence variant lies in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Chronic myelogenous leukemia, BCR-ABL1 positive | ACATAGCCTCATTGGTCACGCTTCACTTGTAAACAGGATTGGCCAAAGCAAGAAGGCTGTAAGTAAAGGTTGGCCCGTCCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCT... | ACATAGCCTCATTGGTCACGCTTCACTTGTAAACAGGATTGGCCAAAGCAAGAAGGCTGTAAGTAAAGGTTGGCCCGTCCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCT... |
Task1_train_13348 | This sequence variant lies in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Abnormal skeletal morphology | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... |
Task1_train_13349 | A mutation in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital heart disease | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... |
Task1_train_13350 | A variant on Chromosome 9 in gene ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Failure to thrive | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... |
Task1_train_13351 | This genomic variant is located on Chromosome 9, within the ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital heart defects and skeletal malformations syndrome | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... | CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTA... |
Task1_train_13352 | A sequence alteration has been identified in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; not provided | CTCGGCTCACTGCAACCTCCGCCTACCAGATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAAATTTTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGCCCAGGCTGGCCTTGAACTTCTGAGCTCAGGCAGTCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCTGCCACAAGTTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATC... | CTCGGCTCACTGCAACCTCCGCCTACCAGATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAAATTTTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGCCCAGGCTGGCCTTGAACTTCTGAGCTCAGGCAGTCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCTGCCACAAGTTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATC... |
Task1_train_13353 | A mutation in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital heart defects and skeletal malformations syndrome | TGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAA... | TGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAA... |
Task1_train_13354 | A variant was discovered in gene POMT1 (protein O-mannosyltransferase 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... |
Task1_train_13355 | Consider a variant on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... |
Task1_train_13356 | A mutation found in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Walker-Warburg congenital muscular dystrophy | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... |
Task1_train_13357 | Located on Chromosome 9, this mutation impacts POMT1 (protein O-mannosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... | CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGAC... |
Task1_train_13358 | The gene POMT1 (protein O-mannosyltransferase 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Walker-Warburg congenital muscular dystrophy | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... |
Task1_train_13359 | A mutation found in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... |
Task1_train_13360 | Here’s a variant in POMT1 (protein O-mannosyltransferase 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... |
Task1_train_13361 | A mutation in POMT1 (protein O-mannosyltransferase 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... | TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGT... |
Task1_train_13362 | Given a variant located on Chromosome 9 and affecting POMT1 (protein O-mannosyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTC... | GCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTC... |
Task1_train_13363 | This sequence variant lies in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... |
Task1_train_13364 | Given this variant in gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... |
Task1_train_13365 | The gene POMT1 (protein O-mannosyltransferase 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... |
Task1_train_13366 | With a mutation on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Walker-Warburg congenital muscular dystrophy | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... | TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGA... |
Task1_train_13367 | Located on Chromosome 9, this mutation impacts POMT1 (protein O-mannosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | GAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATG... | GAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATG... |
Task1_train_13368 | The gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTC... | CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTC... |
Task1_train_13369 | An alteration has been detected in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myopathy caused by variation in POMT1 | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... |
Task1_train_13370 | Here is a genetic alteration in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... |
Task1_train_13371 | Consider a variant on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... |
Task1_train_13372 | This variant affects gene POMT1 (protein O-mannosyltransferase 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Walker-Warburg congenital muscular dystrophy | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... |
Task1_train_13373 | The variant affects gene POMT1 (protein O-mannosyltransferase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... | AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGG... |
Task1_train_13374 | A genetic alteration is present in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... |
Task1_train_13375 | A variant affecting Chromosome 9, within the gene POMT1 (protein O-mannosyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... |
Task1_train_13376 | This mutation is located in gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Walker-Warburg congenital muscular dystrophy | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... |
Task1_train_13377 | The variant affects gene POMT1 (protein O-mannosyltransferase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Abnormality of the musculature | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... |
Task1_train_13378 | A genetic alteration is present in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... | AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCC... |
Task1_train_13379 | Mutation context: Chromosome 9, Gene POMT1 (protein O-mannosyltransferase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... |
Task1_train_13380 | Consider this mutation in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... |
Task1_train_13381 | Chromosome 9 houses a mutation in gene POMT1 (protein O-mannosyltransferase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Walker-Warburg congenital muscular dystrophy | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... | AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTG... |
Task1_train_13382 | This genomic variant is located on Chromosome 9, within the POMT1 (protein O-mannosyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | TAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGAT... | TAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGAT... |
Task1_train_13383 | Here is a mutation in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... |
Task1_train_13384 | This alteration in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... |
Task1_train_13385 | Here is a variant affecting POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Walker-Warburg congenital muscular dystrophy | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... |
Task1_train_13386 | This mutation occurs in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... | CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAG... |
Task1_train_13387 | This variant affects the gene POMT1 (protein O-mannosyltransferase 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | CATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCC... | CATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCC... |
Task1_train_13388 | A change on Chromosome 9 affects gene POMT1 (protein O-mannosyltransferase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... |
Task1_train_13389 | A variant found in Chromosome 9 affects POMT1 (protein O-mannosyltransferase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... |
Task1_train_13390 | Here is a variant affecting POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Walker-Warburg congenital muscular dystrophy | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... |
Task1_train_13391 | Gene POMT1 (protein O-mannosyltransferase 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... | CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGT... |
Task1_train_13392 | This variant lies on Chromosome 9 and affects the gene POMT1 (protein O-mannosyltransferase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | GCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTG... | GCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTG... |
Task1_train_13393 | Consider a variant on Chromosome 9 in gene MED27 (mediator complex subunit 27). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AAGAAAGGATACAGCAAGTCAATGAAGCTGTGTGCTGGTCTGTTACTGGGAGTTGGGTAAAGGGATCGCCTATCACAGGCTAAACAATAAGACTTAAGGCAGGAGAAATGACTGCTCCCTTGGAATAGATGAAAGAAACGTCAAAGCAATGAAAGGCTGGTGTGACGGATTCACGTGTCACACAGGATTATCAAGACCAGGGTTTAATTGGCAGCATGTTTTTCTTTATTAGTGGTTAGTAATGATGTATCTTAGGAGCACTGGCATCTTGAATTTGACAAAGTAGGTGTGGCGTTTAATCTACAGCCACCCCTGGTCTG... | AAGAAAGGATACAGCAAGTCAATGAAGCTGTGTGCTGGTCTGTTACTGGGAGTTGGGTAAAGGGATCGCCTATCACAGGCTAAACAATAAGACTTAAGGCAGGAGAAATGACTGCTCCCTTGGAATAGATGAAAGAAACGTCAAAGCAATGAAAGGCTGGTGTGACGGATTCACGTGTCACACAGGATTATCAAGACCAGGGTTTAATTGGCAGCATGTTTTTCTTTATTAGTGGTTAGTAATGATGTATCTTAGGAGCACTGGCATCTTGAATTTGACAAAGTAGGTGTGGCGTTTAATCTACAGCCACCCCTGGTCTG... |
Task1_train_13394 | The gene MED27 (mediator complex subunit 27) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | TTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATAC... | TTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATAC... |
Task1_train_13395 | A genetic alteration is present in MED27 (mediator complex subunit 27) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | AAATAAACCTAAGCCCATTTACACTCCAGGGTAAAGCCAGCCCCCAGGATCAAAGACTGCTCTTCAAACCATCCATCAGAAGTCCCTTAAGAAGAAATACTTTTTGAAAGGTTAAAAAATACTTGGGACACTTAAAAAAAAAAACCCTAAATGAGAGTTTATCTGACTTTAAAACAGAGCTTCTGGTGCCATTCCAAAGGAGGAAAAAAAAGGTAAGGGCAGTAGAATCAATAAGACCCCCATAATCAGAAATTAACAACTCAAATTCATCCCTGCAGTGGGGAGGAGACTTTCTGGAATTTTGAAATGTGGTATAACAC... | AAATAAACCTAAGCCCATTTACACTCCAGGGTAAAGCCAGCCCCCAGGATCAAAGACTGCTCTTCAAACCATCCATCAGAAGTCCCTTAAGAAGAAATACTTTTTGAAAGGTTAAAAAATACTTGGGACACTTAAAAAAAAAAACCCTAAATGAGAGTTTATCTGACTTTAAAACAGAGCTTCTGGTGCCATTCCAAAGGAGGAAAAAAAAGGTAAGGGCAGTAGAATCAATAAGACCCCCATAATCAGAAATTAACAACTCAAATTCATCCCTGCAGTGGGGAGGAGACTTTCTGGAATTTTGAAATGTGGTATAACAC... |
Task1_train_13396 | Here is a mutation in SETX (senataxin) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | AGTACTTTATCTTAAATAACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGT... | AGTACTTTATCTTAAATAACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGT... |
Task1_train_13397 | The gene SETX (senataxin), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | ACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATC... | ACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATC... |
Task1_train_13398 | The gene SETX (senataxin) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATATCCAACCTAGACACCTCGTTTGCCTCACCTTAGTCCTGGCCCGGCTGTGCAGTCAACATACACCTGAAAAGCAGCTTAAGCTCACGCCACCAG... | CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATATCCAACCTAGACACCTCGTTTGCCTCACCTTAGTCCTGGCCCGGCTGTGCAGTCAACATACACCTGAAAAGCAGCTTAAGCTCACGCCACCAG... |
Task1_train_13399 | An alteration has been detected in SETX (senataxin) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATT... | TCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATT... |
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