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_25700 | This variant affects gene ACTG1 (actin gamma 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Baraitser-winter syndrome 2 | CTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGA... | CTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGA... |
Task1_train_25701 | Assess the clinical impact of this variant on gene ACTG1 (actin gamma 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Baraitser-winter syndrome 2 | CTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGC... | CTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGC... |
Task1_train_25702 | A variant has been detected on Chromosome 17 in ACTG1 (actin gamma 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Baraitser-winter syndrome 2 | ACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCAC... | ACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCAC... |
Task1_train_25703 | Gene ACTG1 (actin gamma 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Inborn genetic diseases | ACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCAC... | ACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCAC... |
Task1_train_25704 | This mutation occurs in ACTG1 (actin gamma 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGT... | CCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGT... |
Task1_train_25705 | Gene ACTG1 (actin gamma 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | CCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGT... | CCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGT... |
Task1_train_25706 | The gene ACTG1 (actin gamma 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Nonsyndromic genetic hearing loss | CAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTG... | CAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTG... |
Task1_train_25707 | Mutation context: Chromosome 17, Gene ACTG1 (actin gamma 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | CCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAAC... | CCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAAC... |
Task1_train_25708 | This mutation occurs in ACTG1 (actin gamma 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Baraitser-winter syndrome 2 | ACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAACTGGTTCTTGCCAGCCTCTAGAGAAATCCCAGAACACTCAGCCCTGACACGTTAATAC... | ACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAACTGGTTCTTGCCAGCCTCTAGAGAAATCCCAGAACACTCAGCCCTGACACGTTAATAC... |
Task1_train_25709 | Gene MRPL12 (mitochondrial ribosomal protein L12) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Combined oxidative phosphorylation deficiency 45 | GGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGACTGTCTCAAACAAACAAACAAAATAAATAAATAAAAATAAAAATAAATAAATAAATAAAAATACAAAAATTAGCCGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATACTACTGCCTTCCAACTTGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAGAAAGGAAGAAATTATACCAAATAGAACATTGTAAG... | GGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGACTGTCTCAAACAAACAAACAAAATAAATAAATAAAAATAAAAATAAATAAATAAATAAAAATACAAAAATTAGCCGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATACTACTGCCTTCCAACTTGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAGAAAGGAAGAAATTATACCAAATAGAACATTGTAAG... |
Task1_train_25710 | This variant lies on Chromosome 17 and affects the gene GCGR (glucagon receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TGAGCCGCCGCGCCCGGCCCCCAGCTCCCTCTTTATCCCTAGGACCCTGAGGCTCAGAGGGGCAGCTTCAGGGGAGGACACCCCACTGGCCAGGACGCCCCAGGCTCTGCTGCTCTGCCACTCAGCTGCCCTCGGAGGAGCGTACACACCCACCAGGACTGCATTGCCCCAGCTGTGCAGCCCCTGCCAGATGTGGGAGGCAGCTAGCTGCCCAGAGGCATGCCCCCCTGCCAGCCACAGCGACCCCTGCTGCTGTTGCTGCTGCTGCTGGCCTGCCAGGTGAGGACTCACAGCACCCTCAGCACCCAGGGGCCCTCCTG... | TGAGCCGCCGCGCCCGGCCCCCAGCTCCCTCTTTATCCCTAGGACCCTGAGGCTCAGAGGGGCAGCTTCAGGGGAGGACACCCCACTGGCCAGGACGCCCCAGGCTCTGCTGCTCTGCCACTCAGCTGCCCTCGGAGGAGCGTACACACCCACCAGGACTGCATTGCCCCAGCTGTGCAGCCCCTGCCAGATGTGGGAGGCAGCTAGCTGCCCAGAGGCATGCCCCCCTGCCAGCCACAGCGACCCCTGCTGCTGTTGCTGCTGCTGCTGGCCTGCCAGGTGAGGACTCACAGCACCCTCAGCACCCAGGGGCCCTCCTG... |
Task1_train_25711 | Assess the clinical impact of this variant on gene GCGR (glucagon receptor), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GCGR-related hyperglucagonemia | AGGGGAGGACACCCCACTGGCCAGGACGCCCCAGGCTCTGCTGCTCTGCCACTCAGCTGCCCTCGGAGGAGCGTACACACCCACCAGGACTGCATTGCCCCAGCTGTGCAGCCCCTGCCAGATGTGGGAGGCAGCTAGCTGCCCAGAGGCATGCCCCCCTGCCAGCCACAGCGACCCCTGCTGCTGTTGCTGCTGCTGCTGGCCTGCCAGGTGAGGACTCACAGCACCCTCAGCACCCAGGGGCCCTCCTGTGAGGACTGCACACTGATGGCTCTCTGTCTGCCTGCCTGCCTGCCTGCCTGTCTGCCTGCCTGTCTGTC... | AGGGGAGGACACCCCACTGGCCAGGACGCCCCAGGCTCTGCTGCTCTGCCACTCAGCTGCCCTCGGAGGAGCGTACACACCCACCAGGACTGCATTGCCCCAGCTGTGCAGCCCCTGCCAGATGTGGGAGGCAGCTAGCTGCCCAGAGGCATGCCCCCCTGCCAGCCACAGCGACCCCTGCTGCTGTTGCTGCTGCTGCTGGCCTGCCAGGTGAGGACTCACAGCACCCTCAGCACCCAGGGGCCCTCCTGTGAGGACTGCACACTGATGGCTCTCTGTCTGCCTGCCTGCCTGCCTGCCTGTCTGCCTGCCTGTCTGTC... |
Task1_train_25712 | This genomic variant is located on Chromosome 17, within the P4HB (prolyl 4-hydroxylase subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GGAGGCAGCGAGACTCCGAACACGGTAGCAAGCACTCTGGACAGACTCATGTATGAAAAAGTACATCATGGTTTCAGGAAACAAGCCCCACCAGGGTGGGCTGCCTGGAGATGGATCCCTTTCCAAAAACCGAAAAGCAGAAGGAAGAGACGGGGGTGAACGGACGGTGTGTAGGGGTGAGGTGTCACTTCAGAGAGGTTCCCTGGGTTTCCGGCGACGCCCTCCTTCAAGCGAGGCCGCAGGCTTCGGAGGCGTGCGCTGCTGCTGGGTGTGCAGCCCCCGAGGGGTCTCGGCAGCGCCCGGGTCTGGCTTTGCGTATT... | GGAGGCAGCGAGACTCCGAACACGGTAGCAAGCACTCTGGACAGACTCATGTATGAAAAAGTACATCATGGTTTCAGGAAACAAGCCCCACCAGGGTGGGCTGCCTGGAGATGGATCCCTTTCCAAAAACCGAAAAGCAGAAGGAAGAGACGGGGGTGAACGGACGGTGTGTAGGGGTGAGGTGTCACTTCAGAGAGGTTCCCTGGGTTTCCGGCGACGCCCTCCTTCAAGCGAGGCCGCAGGCTTCGGAGGCGTGCGCTGCTGCTGGGTGTGCAGCCCCCGAGGGGTCTCGGCAGCGCCCGGGTCTGGCTTTGCGTATT... |
Task1_train_25713 | A mutation on Chromosome 17 affecting ARHGDIA (Rho GDP dissociation inhibitor alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Nephrotic syndrome, type 8 | GTTTGAAGTTCCCGGGGGCTCTTGGAGACTGCAGACACGGACGAGCTGGGGTTCCTGGATGCTGCAGCAGTTGGGGCCCCTGGCTGAGCGCACCTGCCCCAGGAGGCCCTGCGTGGTTCCCCCAGTAGCCCCTTCACACCACACCGCAGTGAGGATGCCCTGTCTCCTGCCGATCCCATCACACCAAGCCTTTTCGCTGTTGGGCTCCTGGCACTGCCCGATCCTGGAGGGCACTTGGCTGCGGCTGTGGCTGTGAAGGGCTGGTGCTCTAGGCGCCTCCGTGGCCCCCGTTGCCTGGGCACCTACTTCCTGCCTCAGCC... | GTTTGAAGTTCCCGGGGGCTCTTGGAGACTGCAGACACGGACGAGCTGGGGTTCCTGGATGCTGCAGCAGTTGGGGCCCCTGGCTGAGCGCACCTGCCCCAGGAGGCCCTGCGTGGTTCCCCCAGTAGCCCCTTCACACCACACCGCAGTGAGGATGCCCTGTCTCCTGCCGATCCCATCACACCAAGCCTTTTCGCTGTTGGGCTCCTGGCACTGCCCGATCCTGGAGGGCACTTGGCTGCGGCTGTGGCTGTGAAGGGCTGGTGCTCTAGGCGCCTCCGTGGCCCCCGTTGCCTGGGCACCTACTTCCTGCCTCAGCC... |
Task1_train_25714 | This sequence change occurs on Chromosome 17, altering PCYT2 (phosphate cytidylyltransferase 2, ethanolamine). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spastic paraplegia 82, autosomal recessive | GTCCTCACCAGCCCTTCCAGAGCCAGGCCAGTTAGAGAGGGCGGCCCTGCAGAGTCCTATGTCCAAACGCAGAAGGCGCAGAAGCAGAGCAGGGGGAGGGCCGGCCAGGGCCTCTGCCAGGTTAGAAGTCACCATCGCGCTCCCCCAGGGGCTGTGCCGCCTGCTGCCTGGCAGCCTCCAGGAAGGCCAGCTCCTTGGCTTCCTTCTTCTGGTTTCGCGCCTCATACTCCAACCTGAGAGGGCAGGGTAAGTCTAGCAGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGGCACGGTAAGTCTAGCGGAGAGCGCCCAT... | GTCCTCACCAGCCCTTCCAGAGCCAGGCCAGTTAGAGAGGGCGGCCCTGCAGAGTCCTATGTCCAAACGCAGAAGGCGCAGAAGCAGAGCAGGGGGAGGGCCGGCCAGGGCCTCTGCCAGGTTAGAAGTCACCATCGCGCTCCCCCAGGGGCTGTGCCGCCTGCTGCCTGGCAGCCTCCAGGAAGGCCAGCTCCTTGGCTTCCTTCTTCTGGTTTCGCGCCTCATACTCCAACCTGAGAGGGCAGGGTAAGTCTAGCAGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGGCACGGTAAGTCTAGCGGAGAGCGCCCAT... |
Task1_train_25715 | This gene mutation involves PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive cutis laxa type 2B | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... |
Task1_train_25716 | Gene PYCR1 (pyrroline-5-carboxylate reductase 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... |
Task1_train_25717 | Given this variant in gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cutis laxa | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... | TCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAAC... |
Task1_train_25718 | The gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive cutis laxa type 2B | GAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGG... | GAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGG... |
Task1_train_25719 | Given this variant in gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive cutis laxa type 2B | TTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCT... | TTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCT... |
Task1_train_25720 | Gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive cutis laxa type 2B | AGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCC... | AGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCC... |
Task1_train_25721 | Gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive cutis laxa type 2B | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... |
Task1_train_25722 | Consider this mutation in PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; PYCR1-related de Barsy syndrome | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... |
Task1_train_25723 | This gene mutation involves PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cutis laxa | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... |
Task1_train_25724 | A change on Chromosome 17 affects gene PYCR1 (pyrroline-5-carboxylate reductase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive cutis laxa type 2B | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... | GGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAG... |
Task1_train_25725 | Gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAG... | TGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAG... |
Task1_train_25726 | This variant impacts the gene PYCR1 (pyrroline-5-carboxylate reductase 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive cutis laxa type 2B | AAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCC... | AAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCC... |
Task1_train_25727 | This mutation occurs in RAC3 (Rac family small GTPase 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; See cases | CCTGCAGAACGCCGTCCTGGCTTACGTGCAGGCGTCCCCCGTGAGGACCCTGAGCCCCCCAAAGTGAGACAGGCCGGGAGGACCCGGGCGCAGTAGGAGTGCATCAGGCGGCGCCCGAGATGGACCAGGGGCTGCGTCCCGCCCGCGCCGCCTCTTTGAGACCCGGGTCGTCTGTTCCACGCGGCGGTTGCGGCGACTGTTGGTGGTGTCGCGGCTGCGGGGGAACCCCGTGGGAGGCGCCTGGGAAGGGCTCCCTACCGGCCCCTTCTTCCCGGTCGACGCCACGTGGGAGCACACCGGGAAGGGGTCCCGCGGGCGCG... | CCTGCAGAACGCCGTCCTGGCTTACGTGCAGGCGTCCCCCGTGAGGACCCTGAGCCCCCCAAAGTGAGACAGGCCGGGAGGACCCGGGCGCAGTAGGAGTGCATCAGGCGGCGCCCGAGATGGACCAGGGGCTGCGTCCCGCCCGCGCCGCCTCTTTGAGACCCGGGTCGTCTGTTCCACGCGGCGGTTGCGGCGACTGTTGGTGGTGTCGCGGCTGCGGGGGAACCCCGTGGGAGGCGCCTGGGAAGGGCTCCCTACCGGCCCCTTCTTCCCGGTCGACGCCACGTGGGAGCACACCGGGAAGGGGTCCCGCGGGCGCG... |
Task1_train_25728 | Here is a variant affecting CSNK1D (casein kinase 1 delta) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Advanced sleep phase syndrome 2 | AAGTTCTCCTGGAGACATCTCTCGTAAAAACTTAAGGTGTTTTTAAGCTTGCAGGTTTTACTTGACCCCAGCACCAGGCTCCCGCAGGCCAAGGCCACACCCCGCACCACCCTGCTCTATTGGCTCGTCACACCTTCAAGGCAATGCAGGCTCCAGGCCCTTGAGAAGCCAGTCCACCACCAAGGGCCGCCAGACAGGCTCCCAGGGCGGAGTCTCTGCTGAGCTTTCCCTGGGTTGGTGATGGGATTTTTCATTCCTGTGGCCTCCTCTGGTCACGTGAGGCCCGTGATGGGACACACTGGGTGCCCCTCTCTGTAACG... | AAGTTCTCCTGGAGACATCTCTCGTAAAAACTTAAGGTGTTTTTAAGCTTGCAGGTTTTACTTGACCCCAGCACCAGGCTCCCGCAGGCCAAGGCCACACCCCGCACCACCCTGCTCTATTGGCTCGTCACACCTTCAAGGCAATGCAGGCTCCAGGCCCTTGAGAAGCCAGTCCACCACCAAGGGCCGCCAGACAGGCTCCCAGGGCGGAGTCTCTGCTGAGCTTTCCCTGGGTTGGTGATGGGATTTTTCATTCCTGTGGCCTCCTCTGGTCACGTGAGGCCCGTGATGGGACACACTGGGTGCCCCTCTCTGTAACG... |
Task1_train_25729 | The gene CSNK1D (casein kinase 1 delta) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Advanced sleep phase syndrome 2 | CCTGGAGACATCTCTCGTAAAAACTTAAGGTGTTTTTAAGCTTGCAGGTTTTACTTGACCCCAGCACCAGGCTCCCGCAGGCCAAGGCCACACCCCGCACCACCCTGCTCTATTGGCTCGTCACACCTTCAAGGCAATGCAGGCTCCAGGCCCTTGAGAAGCCAGTCCACCACCAAGGGCCGCCAGACAGGCTCCCAGGGCGGAGTCTCTGCTGAGCTTTCCCTGGGTTGGTGATGGGATTTTTCATTCCTGTGGCCTCCTCTGGTCACGTGAGGCCCGTGATGGGACACACTGGGTGCCCCTCTCTGTAACGGGTTCCC... | CCTGGAGACATCTCTCGTAAAAACTTAAGGTGTTTTTAAGCTTGCAGGTTTTACTTGACCCCAGCACCAGGCTCCCGCAGGCCAAGGCCACACCCCGCACCACCCTGCTCTATTGGCTCGTCACACCTTCAAGGCAATGCAGGCTCCAGGCCCTTGAGAAGCCAGTCCACCACCAAGGGCCGCCAGACAGGCTCCCAGGGCGGAGTCTCTGCTGAGCTTTCCCTGGGTTGGTGATGGGATTTTTCATTCCTGTGGCCTCCTCTGGTCACGTGAGGCCCGTGATGGGACACACTGGGTGCCCCTCTCTGTAACGGGTTCCC... |
Task1_train_25730 | This sequence change occurs on Chromosome 17, altering TBCD (tubulin folding cofactor D). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | CTGCCTTCTCTCCTGACTTTCCCTAATCAAAGCTGGACACTAGCTGAGGATGTTCTGGACTCGGGGCGTGTTTTGTGGCCCACACCAGGATCTTCCTGGCAGTTTGTGCTGATGGCACTGCCTCCAGGTTCTCCCTTCTTATCCGGTCTCTGCAAAGTGCATGGAATTTTCACAGGCACGCTTTAAGATTCAAAGTGACACTGAATGACTGGTTCCAGTCATCAGGATGCTGTGAGCTACAAAGCTGATCTGAGGATGCTTTGCTTTGCACAGGTACCAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCA... | CTGCCTTCTCTCCTGACTTTCCCTAATCAAAGCTGGACACTAGCTGAGGATGTTCTGGACTCGGGGCGTGTTTTGTGGCCCACACCAGGATCTTCCTGGCAGTTTGTGCTGATGGCACTGCCTCCAGGTTCTCCCTTCTTATCCGGTCTCTGCAAAGTGCATGGAATTTTCACAGGCACGCTTTAAGATTCAAAGTGACACTGAATGACTGGTTCCAGTCATCAGGATGCTGTGAGCTACAAAGCTGATCTGAGGATGCTTTGCTTTGCACAGGTACCAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCA... |
Task1_train_25731 | The gene TBCD (tubulin folding cofactor D), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | AGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCCACAGATGGGGGTC... | AGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCCACAGATGGGGGTC... |
Task1_train_25732 | A mutation in TBCD (tubulin folding cofactor D), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | CCAGGTGGGGTGTCCTGAGGAAAGGTGGCTTGGAGAGGGGTGGGCCCCTGCCTGGAGCCCTGGCAGGCTGGGGAGACCTTGGTGTCTGGCAGGGACCCCGGAATGTCCTGCTGCTCCCCCGGGCCTCTGTGTGCAGCGCCCTGCGTCGTGGCTGGGCTGAGAGGAGGCAGTTTCCCTAGCCCCTCACTCTGGCGAATTTCACATTCTTGATACCACGGTATCTTTGAACTTTCTATTTTGAGGAAAGTTCATTTTTATGTAGTTTTAGTAAGTGTATAAACGTAATAATCTTATTAAAAGTAATCACCATATGTATATAA... | CCAGGTGGGGTGTCCTGAGGAAAGGTGGCTTGGAGAGGGGTGGGCCCCTGCCTGGAGCCCTGGCAGGCTGGGGAGACCTTGGTGTCTGGCAGGGACCCCGGAATGTCCTGCTGCTCCCCCGGGCCTCTGTGTGCAGCGCCCTGCGTCGTGGCTGGGCTGAGAGGAGGCAGTTTCCCTAGCCCCTCACTCTGGCGAATTTCACATTCTTGATACCACGGTATCTTTGAACTTTCTATTTTGAGGAAAGTTCATTTTTATGTAGTTTTAGTAAGTGTATAAACGTAATAATCTTATTAAAAGTAATCACCATATGTATATAA... |
Task1_train_25733 | This mutation is located in gene TBCD (tubulin folding cofactor D) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | GGAAGATGAGGCTCACCGATGTTTGTTTGTTAGCTCACACATTTTAAATTTCAGGATTTGCCAGACTGTTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTGTGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACTACACCACGGACAGCAGAGGGGACGTGGGCACCTGGTACGTACGTAGCAGTGGGTGAGCGCTTCTTCTGAGAAGCCCATCTATTCCGTGGAAACTCGGAGGCCCCGGGCTTTTCTGCAGGGAGAAATCTTTGTAGATTTGTGCCGTGTTTTGCGTTTTAAAGG... | GGAAGATGAGGCTCACCGATGTTTGTTTGTTAGCTCACACATTTTAAATTTCAGGATTTGCCAGACTGTTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTGTGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACTACACCACGGACAGCAGAGGGGACGTGGGCACCTGGTACGTACGTAGCAGTGGGTGAGCGCTTCTTCTGAGAAGCCCATCTATTCCGTGGAAACTCGGAGGCCCCGGGCTTTTCTGCAGGGAGAAATCTTTGTAGATTTGTGCCGTGTTTTGCGTTTTAAAGG... |
Task1_train_25734 | A variant on Chromosome 17 in gene TBCD (tubulin folding cofactor D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | TTCAGGATTTGCCAGACTGTTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTGTGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACTACACCACGGACAGCAGAGGGGACGTGGGCACCTGGTACGTACGTAGCAGTGGGTGAGCGCTTCTTCTGAGAAGCCCATCTATTCCGTGGAAACTCGGAGGCCCCGGGCTTTTCTGCAGGGAGAAATCTTTGTAGATTTGTGCCGTGTTTTGCGTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCA... | TTCAGGATTTGCCAGACTGTTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTGTGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACTACACCACGGACAGCAGAGGGGACGTGGGCACCTGGTACGTACGTAGCAGTGGGTGAGCGCTTCTTCTGAGAAGCCCATCTATTCCGTGGAAACTCGGAGGCCCCGGGCTTTTCTGCAGGGAGAAATCTTTGTAGATTTGTGCCGTGTTTTGCGTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCA... |
Task1_train_25735 | This mutation occurs in THOC1 (THO complex subunit 1) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hearing loss, autosomal dominant 86 | TGGTTGGCTTTTCAAATGCTGGGATTATGCATAGGGTAGTCTATATAAACAATGAACTGTCTGCACATAATATAGAAACCAGCAGATAAAGCCCATTAGTGATTTACGATTTATTAAGTAATATACATGAAAATTACAAATGAAAGAAATTTCTTATAATTTCTTTCCTCCTTGTCTATCTCCTCACTCCAGAGAGGATACTCAATAAATTAGGAGATTATCTCTGTAAATCAAAAAGCTTAGGCTCTGAAAACTCACCACGTTGTTGGAGCTTCCTCGTCTCCCATTTCGCCTTCTTCTACATCCATTCCTTCTTCTCT... | TGGTTGGCTTTTCAAATGCTGGGATTATGCATAGGGTAGTCTATATAAACAATGAACTGTCTGCACATAATATAGAAACCAGCAGATAAAGCCCATTAGTGATTTACGATTTATTAAGTAATATACATGAAAATTACAAATGAAAGAAATTTCTTATAATTTCTTTCCTCCTTGTCTATCTCCTCACTCCAGAGAGGATACTCAATAAATTAGGAGATTATCTCTGTAAATCAAAAAGCTTAGGCTCTGAAAACTCACCACGTTGTTGGAGCTTCCTCGTCTCCCATTTCGCCTTCTTCTACATCCATTCCTTCTTCTCT... |
Task1_train_25736 | A change on Chromosome 18 affects gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | CAGTGTAAATAATTTGTTCTTTCCCTTTAATTTGTCAGTGTTCAGAGTGACAAGTTGGTGCCCTAGCTCATCCCAGTGGTGAGCAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAAT... | CAGTGTAAATAATTTGTTCTTTCCCTTTAATTTGTCAGTGTTCAGAGTGACAAGTTGGTGCCCTAGCTCATCCCAGTGGTGAGCAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAAT... |
Task1_train_25737 | Located on Chromosome 18, this mutation impacts SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | CTCATCCCAGTGGTGAGCAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTT... | CTCATCCCAGTGGTGAGCAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTT... |
Task1_train_25738 | Gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | CAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTG... | CAATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTG... |
Task1_train_25739 | Consider a variant on Chromosome 18 in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Determine its clinical classification and disease relevance. | Pathogenic; SMCHD1-related disorder | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... |
Task1_train_25740 | This mutation is located in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... |
Task1_train_25741 | This is a variant in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... | AATAATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGA... |
Task1_train_25742 | This mutation is located in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Facioscapulohumeral muscular dystrophy 2 | ATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCT... | ATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCT... |
Task1_train_25743 | This alteration in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | ATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCT... | ATGGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCT... |
Task1_train_25744 | This genomic variant is located on Chromosome 18, within the SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | GGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTG... | GGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTG... |
Task1_train_25745 | This alteration occurs within gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; Facioscapulohumeral muscular dystrophy 2 | GGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTG... | GGTTTTTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTG... |
Task1_train_25746 | With a mutation on Chromosome 18 in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | TTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACC... | TTATTAATATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACC... |
Task1_train_25747 | This sequence change occurs on Chromosome 18, altering SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | ATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACCCTTTTGTT... | ATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACCCTTTTGTT... |
Task1_train_25748 | Gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | ATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACCCTTTTGTT... | ATCATTTTTGAAGATTTGAGTATCACTAGTCTAGATTTTTTAGATGTTTTCAATAAGAATGTTAATCTTTAGACTAGTCCATTACTACCCGAAACAGAAGCCTTTTCTCTTAACTATATATTGCTGTATTGTTTCATTTTAGACAGAGCATGTATGTTTTAATTCTAATGTAAATGAAAATGTTAACCACTTTTCTAATTCTCATTTTTTGATTAATGTGATTTTACAGTTCATGTGTTCATTGGTCATTTGTATTTTCTCCTTTTCATTTTTTTGTGTTTTTACTTTTTCTCTTTGTTGATCCTTGTCACCCTTTTGTT... |
Task1_train_25749 | Chromosome 18 houses a mutation in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | GTATGTTAAATATGTCACTCAATTTTCTACCAGCTTGCATCGTTTATAAGGAGAAATCTGTTGTCAGTCTTATCTTTGTATCTCAAAACATATAGTCTGTTTTTCTCTGACTTGTTTTAAGATTTTTTTTTTAAATCATCAGTGTGTATGCTTTGTAGCATTGTGGTGTGTGTTTCTGTTGAAAGTAGTTGTGTGTTTGTGTATTGTGTGAGGTGTTTTGTATAAATGCAAACTTGTGTGGGGAGGCATTTTCTGTGTGTTATTTTGTGTCGACAGTTTGTGTATGTTGTGTGGGGATGTGATTGTAGATGTTGGGAGGG... | GTATGTTAAATATGTCACTCAATTTTCTACCAGCTTGCATCGTTTATAAGGAGAAATCTGTTGTCAGTCTTATCTTTGTATCTCAAAACATATAGTCTGTTTTTCTCTGACTTGTTTTAAGATTTTTTTTTTAAATCATCAGTGTGTATGCTTTGTAGCATTGTGGTGTGTGTTTCTGTTGAAAGTAGTTGTGTGTTTGTGTATTGTGTGAGGTGTTTTGTATAAATGCAAACTTGTGTGGGGAGGCATTTTCTGTGTGTTATTTTGTGTCGACAGTTTGTGTATGTTGTGTGGGGATGTGATTGTAGATGTTGGGAGGG... |
Task1_train_25750 | Here is a mutation in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAGGCATTTTCTGTGTGTTATTTTGTGTCGACAGTTTGTGTATGTTGTGTGGGGATGTGATTGTAGATGTTGGGAGGGTATTGTGAGGGGATACTTTTTTGGGTGCTTTTGTTGTTTTGTATCTCTGGTATTACAGTGTCCTACCTGGTCAATGTTGTCTTTATTTTGATTATTTATATATGAGGATAGGACTTTTTATACCAATTAAAATGTTTTTGTTTATCCCATTCTTTCTGTTTCTGTTTCTTCTGTTTTCTCTTAAATTTATTGTCTTCTGCTGTTTTGTTTTCTTGCTCCATCTTTTTCTTTTTAATATTTTA... | GAGGCATTTTCTGTGTGTTATTTTGTGTCGACAGTTTGTGTATGTTGTGTGGGGATGTGATTGTAGATGTTGGGAGGGTATTGTGAGGGGATACTTTTTTGGGTGCTTTTGTTGTTTTGTATCTCTGGTATTACAGTGTCCTACCTGGTCAATGTTGTCTTTATTTTGATTATTTATATATGAGGATAGGACTTTTTATACCAATTAAAATGTTTTTGTTTATCCCATTCTTTCTGTTTCTGTTTCTTCTGTTTTCTCTTAAATTTATTGTCTTCTGCTGTTTTGTTTTCTTGCTCCATCTTTTTCTTTTTAATATTTTA... |
Task1_train_25751 | Here’s a variant in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | CTTCCATGACCCCGTTTTGTGCTTCTTTTCCATAGGACCTGTCGTAATCTTCCATACCATATATATTTATTTTTGTTGTTAAATTCACTGCTGTATCTCCAATGTCTTCTAGAAGAATACTTGCTACATGGTAGATGCTCAAATGTTTATCAAGTGAATGAATGCATCAAGCCTATTAAAATAAAAAATATACGTACATATGTGCCTATATGACATTAGTACTGAAAATAATCATTGTGTTTTTATTCCAGTAACACTTGTAGGGACTCTATATTCCATTAGACCAAATCAGAGGAATAGTTATTTAATGGCTCTAAAAA... | CTTCCATGACCCCGTTTTGTGCTTCTTTTCCATAGGACCTGTCGTAATCTTCCATACCATATATATTTATTTTTGTTGTTAAATTCACTGCTGTATCTCCAATGTCTTCTAGAAGAATACTTGCTACATGGTAGATGCTCAAATGTTTATCAAGTGAATGAATGCATCAAGCCTATTAAAATAAAAAATATACGTACATATGTGCCTATATGACATTAGTACTGAAAATAATCATTGTGTTTTTATTCCAGTAACACTTGTAGGGACTCTATATTCCATTAGACCAAATCAGAGGAATAGTTATTTAATGGCTCTAAAAA... |
Task1_train_25752 | Given this context: Chromosome 18, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anosmia | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... |
Task1_train_25753 | Consider a variant on Chromosome 18 in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Determine its clinical classification and disease relevance. | Pathogenic; Short nose | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... |
Task1_train_25754 | The variant affects gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... | GGAATACCTTTTTTCTTGTTGAAGTTGTTTATTATCCCTGTTACCCAAGGTATTTAAGTAGGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGAT... |
Task1_train_25755 | Given this context: Chromosome 18, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | GGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGATGGTGTCAAACTTACTAGTTTTGTTTTTGGAATCTTAGGGTAAGATTGTCTCAGTGCTATA... | GGACTTTGCAGTTTTCTTCAAGTACATATTTTATTAGCTATTTTATAGTTTATTGAAGGAACTCAGTGTACATTAACACATAATTTAAATATACTCTTGCTCTAATGAAGGATTATGAAGAAATATTGCAAATTTCTATTTCACGAATAAAGACGTGGTATTTTATAATCCTGAACAATGTTACCAAAATATAATCTTTTTTAACCTTTTCTGAAAAAATAAAGAGGTGTTATTTCCAAAATGTTGGTTTTCAGTGAGATGGTGTCAAACTTACTAGTTTTGTTTTTGGAATCTTAGGGTAAGATTGTCTCAGTGCTATA... |
Task1_train_25756 | Mutation context: Chromosome 18, Gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | GCCGTGTTGCCCAGGCTGGTCTTAAGATCCTGGCCTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGGTGTGAGCCACCACACCTGGCCCCCACCTTTTTTTCCCCCCCCAGTAGAGAGATAGGGATTTAACAATTATTTTCTATGTGGTATTCATATTCAGTTTCTTAGCACCAGTTATTGAATGTTATAATTTACCCAAGAGTTAGAACTTGTATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCT... | GCCGTGTTGCCCAGGCTGGTCTTAAGATCCTGGCCTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGGTGTGAGCCACCACACCTGGCCCCCACCTTTTTTTCCCCCCCCAGTAGAGAGATAGGGATTTAACAATTATTTTCTATGTGGTATTCATATTCAGTTTCTTAGCACCAGTTATTGAATGTTATAATTTACCCAAGAGTTAGAACTTGTATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCT... |
Task1_train_25757 | This is a variant in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | TGTATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCTTGTAGCTTTATCTTGTAATTTGGTATCTTTGGGAAAAAACATTTTCACTATTGTTCCTTTTTGAGAATACTTTTGCTCTTCTAGATAATTTTGGAATCAGCTTTGTACATTCACTTGAAGTAATTCTAGTGAGATTATTGGGATTGCATTGAATTTATAGGTTAACAATATTAAACTTTTTCATTCAGAATACTTCCTTAGTACATTCTTGGTTTTCTAGGGCCTG... | TGTATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCTTGTAGCTTTATCTTGTAATTTGGTATCTTTGGGAAAAAACATTTTCACTATTGTTCCTTTTTGAGAATACTTTTGCTCTTCTAGATAATTTTGGAATCAGCTTTGTACATTCACTTGAAGTAATTCTAGTGAGATTATTGGGATTGCATTGAATTTATAGGTTAACAATATTAAACTTTTTCATTCAGAATACTTCCTTAGTACATTCTTGGTTTTCTAGGGCCTG... |
Task1_train_25758 | Gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arrhinia with choanal atresia and microphthalmia syndrome | ATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCTTGTAGCTTTATCTTGTAATTTGGTATCTTTGGGAAAAAACATTTTCACTATTGTTCCTTTTTGAGAATACTTTTGCTCTTCTAGATAATTTTGGAATCAGCTTTGTACATTCACTTGAAGTAATTCTAGTGAGATTATTGGGATTGCATTGAATTTATAGGTTAACAATATTAAACTTTTTCATTCAGAATACTTCCTTAGTACATTCTTGGTTTTCTAGGGCCTGCAA... | ATAATACAAAGTTCCCATAAGTACATAGGTCTAGATTCTTTACTATAAAGTACTATTTTATTTTTTTTTAATATGAGTAATGATACTGTCTTGTAGCTTTATCTTGTAATTTGGTATCTTTGGGAAAAAACATTTTCACTATTGTTCCTTTTTGAGAATACTTTTGCTCTTCTAGATAATTTTGGAATCAGCTTTGTACATTCACTTGAAGTAATTCTAGTGAGATTATTGGGATTGCATTGAATTTATAGGTTAACAATATTAAACTTTTTCATTCAGAATACTTCCTTAGTACATTCTTGGTTTTCTAGGGCCTGCAA... |
Task1_train_25759 | Given a variant located on Chromosome 18 and affecting SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Abnormality of the musculature | TTGATACTACTCTTTCAGTAGTTTAATGTTGAATTGCCAAGAAATAGATGATTTTATTATCAATTTATTGCTGGGCAATAAATACAGTGCATAGTACATAGTATTTGTAGTCAGTCAGTCCTGTAAGATGTTGAAATTAATTTTGCTCTTATAAAGCTTGTGAATCATAGAAGATTAGGACACTTTTAAGAATTATACACCGAGAAAGACCTTATCAAAATGAGTTACTACTCCTTTATAATACACTTAGAATTCATTTATAATATGGTGTTAGTTATCCAACATTTATTGAGCAGTGGGTGTTTTCAAAAGCTATCCAG... | TTGATACTACTCTTTCAGTAGTTTAATGTTGAATTGCCAAGAAATAGATGATTTTATTATCAATTTATTGCTGGGCAATAAATACAGTGCATAGTACATAGTATTTGTAGTCAGTCAGTCCTGTAAGATGTTGAAATTAATTTTGCTCTTATAAAGCTTGTGAATCATAGAAGATTAGGACACTTTTAAGAATTATACACCGAGAAAGACCTTATCAAAATGAGTTACTACTCCTTTATAATACACTTAGAATTCATTTATAATATGGTGTTAGTTATCCAACATTTATTGAGCAGTGGGTGTTTTCAAAAGCTATCCAG... |
Task1_train_25760 | The gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Facioscapulohumeral muscular dystrophy 2 | CAAAAATACAATTTTATTTTAATATTAGAATGCTGTTTTCATTAGTTTTTCTAATGATAGTTACCAAGGTTTTTTTCTTTGTAATAAAGAAGTTCTGTAAAATTATTATTAAGCCTTTTTCTCTTCGTAAATCTTAATACTGAAGCTTTTTTTTTTTTTAAAAACTAAATATTAGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAA... | CAAAAATACAATTTTATTTTAATATTAGAATGCTGTTTTCATTAGTTTTTCTAATGATAGTTACCAAGGTTTTTTTCTTTGTAATAAAGAAGTTCTGTAAAATTATTATTAAGCCTTTTTCTCTTCGTAAATCTTAATACTGAAGCTTTTTTTTTTTTTAAAAACTAAATATTAGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAA... |
Task1_train_25761 | This mutation is located in gene LPIN2 (lipin 2) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CCCAGAAGGAAAACATTTTAAGAGCACCATTTCAAGTCACAAAACATAATACAAGCGACCCAAACTTGTTAGGTCCCCAGCTTCCTTCTCCTCCTGGGAGTAACTCACCACGTGCAGAAGGGACTGAAAGGCAGCCCCCTTGCTGACGTGGACATGAACTTGGTTCAGGCAAGACTTCCCTTCTGACATTTGAAAAACAGGTGAGAACTCCCTGAACCCTCTTTTTCAGAAGGTGTTGGGGAAAAAAAGACTTGCTCTGCTGCTTGTTTAGTATGGTTCTCTGGATGAATTTCTATGGAGACCTGGTGGAACAGATTCTG... | CCCAGAAGGAAAACATTTTAAGAGCACCATTTCAAGTCACAAAACATAATACAAGCGACCCAAACTTGTTAGGTCCCCAGCTTCCTTCTCCTCCTGGGAGTAACTCACCACGTGCAGAAGGGACTGAAAGGCAGCCCCCTTGCTGACGTGGACATGAACTTGGTTCAGGCAAGACTTCCCTTCTGACATTTGAAAAACAGGTGAGAACTCCCTGAACCCTCTTTTTCAGAAGGTGTTGGGGAAAAAAAGACTTGCTCTGCTGCTTGTTTAGTATGGTTCTCTGGATGAATTTCTATGGAGACCTGGTGGAACAGATTCTG... |
Task1_train_25762 | A mutation on Chromosome 18 affecting TGIF1 (TGFB induced factor homeobox 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Holoprosencephaly 4 | CATTTAATTAACTTAACACTTTTTTTAAAAGTTCGATTTCTTTAATTATTAAAGCCAATGTGAGACAGGAACTCAGCTATAATTTCTTTAAGCTATTTTATTAATAGTTCTTCACCCAAATTTCAATATAGGTTTTGAAAGTCTCATCTTGCCAATAGTGAAAGTAGTTTCAGTTTTAAATGGGCACTTTTAAAAACCTTTTTAAAAACTTAAATCATCAGGGGAGGGGAATTTCAAATACATGGCAGTTAAAACTTAGGATTCTTGTGCAGTTTATTTGTAGCTGTTTGTTAAGCTGTGAGCTAAAGTGAATTTGCAAG... | CATTTAATTAACTTAACACTTTTTTTAAAAGTTCGATTTCTTTAATTATTAAAGCCAATGTGAGACAGGAACTCAGCTATAATTTCTTTAAGCTATTTTATTAATAGTTCTTCACCCAAATTTCAATATAGGTTTTGAAAGTCTCATCTTGCCAATAGTGAAAGTAGTTTCAGTTTTAAATGGGCACTTTTAAAAACCTTTTTAAAAACTTAAATCATCAGGGGAGGGGAATTTCAAATACATGGCAGTTAAAACTTAGGATTCTTGTGCAGTTTATTTGTAGCTGTTTGTTAAGCTGTGAGCTAAAGTGAATTTGCAAG... |
Task1_train_25763 | This mutation occurs in TGIF1 (TGFB induced factor homeobox 1) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TATTGAACCCCGTCCATCTGTGATTTAAATATTCTCTATGGCTTGTGAATTCTTAAAATTTCTGGCAGGATTAAAGTACTTACAGCCAAAAGAGCTTCCTCTGGGGCTTGCATATTCAGTTTCCTTTGTCATGTAATCATTTAAGACTGAACTCTGCTTATTGATATGTAGTATTCTATTCTAGGTTGAGCTCAAACTGGTAGCTGAAATTTAGGAGACATTTTTAATTCATTTAGTATTAGGCATCTTTTGACCTTACTAAAGTACCAGTAGTAGAAAAATATTTTTGTGTGATGAAACTGAAAACATCAGTGGTCGTA... | TATTGAACCCCGTCCATCTGTGATTTAAATATTCTCTATGGCTTGTGAATTCTTAAAATTTCTGGCAGGATTAAAGTACTTACAGCCAAAAGAGCTTCCTCTGGGGCTTGCATATTCAGTTTCCTTTGTCATGTAATCATTTAAGACTGAACTCTGCTTATTGATATGTAGTATTCTATTCTAGGTTGAGCTCAAACTGGTAGCTGAAATTTAGGAGACATTTTTAATTCATTTAGTATTAGGCATCTTTTGACCTTACTAAAGTACCAGTAGTAGAAAAATATTTTTGTGTGATGAAACTGAAAACATCAGTGGTCGTA... |
Task1_train_25764 | This variant lies on Chromosome 18 and affects the gene TGIF1 (TGFB induced factor homeobox 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Holoprosencephaly 4 | GACATTTTTAATTCATTTAGTATTAGGCATCTTTTGACCTTACTAAAGTACCAGTAGTAGAAAAATATTTTTGTGTGATGAAACTGAAAACATCAGTGGTCGTATTTAATAAAAGGTGACTAGTACTGCCCATTTAAAGTAGGTGTCTAACTTTGAATAAATGTGGATAGCAATGAATAAGAAATGACCATGCATGGTGTTAGCAGAAAATTTTAACATGTGTTTTACCTTTAGAATACTAACTGGGTTCAGCGTAGTATGTAATTTTCCTTCCTTATATCCATGAAAAAAAATGTACGAGTGCTCCCTTTCATTTCAAA... | GACATTTTTAATTCATTTAGTATTAGGCATCTTTTGACCTTACTAAAGTACCAGTAGTAGAAAAATATTTTTGTGTGATGAAACTGAAAACATCAGTGGTCGTATTTAATAAAAGGTGACTAGTACTGCCCATTTAAAGTAGGTGTCTAACTTTGAATAAATGTGGATAGCAATGAATAAGAAATGACCATGCATGGTGTTAGCAGAAAATTTTAACATGTGTTTTACCTTTAGAATACTAACTGGGTTCAGCGTAGTATGTAATTTTCCTTCCTTATATCCATGAAAAAAAATGTACGAGTGCTCCCTTTCATTTCAAA... |
Task1_train_25765 | The gene APCDD1 (APC down-regulated 1) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypotrichosis 1 | AAAGATGTGGCAGAGCAAGACTAACACAAAATAATGCCTGCGCTCATAGGCATCGTTTTCATGATCTTCTTTTTGCCCACACAGGTATTCTTTCATCTTCAAGATTTGCAAACAGGAGCACATTAATCTTCACAACATCCGTGTGAGCTGAGCAGCTGGTACATCTTATGATCCTCTGTATTAATGATGGAAAGATGATAATGATGGTGATAAAAATTAAGACACATCAAACAGCGTCAGCACTATCACATCAAAACACCCATGGATTTCTCAGGTTAAAAAAAAAAAAAGAAAAGTGGAAACTGTCAAATGTATTCTCA... | AAAGATGTGGCAGAGCAAGACTAACACAAAATAATGCCTGCGCTCATAGGCATCGTTTTCATGATCTTCTTTTTGCCCACACAGGTATTCTTTCATCTTCAAGATTTGCAAACAGGAGCACATTAATCTTCACAACATCCGTGTGAGCTGAGCAGCTGGTACATCTTATGATCCTCTGTATTAATGATGGAAAGATGATAATGATGGTGATAAAAATTAAGACACATCAAACAGCGTCAGCACTATCACATCAAAACACCCATGGATTTCTCAGGTTAAAAAAAAAAAAAGAAAAGTGGAAACTGTCAAATGTATTCTCA... |
Task1_train_25766 | Gene PIEZO2 (piezo type mechanosensitive ion channel component 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AGTGACTGGGCCAGGACCAGAAGCCAGGCTTTGGCATTCTCTGTGTGATTTCCAGTCCAGCACACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATA... | AGTGACTGGGCCAGGACCAGAAGCCAGGCTTTGGCATTCTCTGTGTGATTTCCAGTCCAGCACACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATA... |
Task1_train_25767 | The gene PIEZO2 (piezo type mechanosensitive ion channel component 2) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | CACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGG... | CACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGG... |
Task1_train_25768 | Here is a mutation in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | CACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGG... | CACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGG... |
Task1_train_25769 | A genetic alteration is present in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gordon syndrome | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25770 | The gene PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gordon syndrome | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25771 | Here is a mutation in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25772 | The following genetic variant occurs in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Arthrogryposis, distal, with impaired proprioception and touch | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25773 | Consider this mutation in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25774 | Gene PIEZO2 (piezo type mechanosensitive ion channel component 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25775 | A mutation in PIEZO2 (piezo type mechanosensitive ion channel component 2), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Fetal akinesia deformation sequence 1 | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25776 | A variant on Chromosome 18 in gene PIEZO2 (piezo type mechanosensitive ion channel component 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Arthrogryposis multiplex congenita | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... | AACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAATCAGAACTTCATGCAAGAATTCCGCTAAGTGGTTTGAGTTTATTGTTGCAATGATGGAAGCAGTTTATCTCCACAGGGGGAAGCGTGCTGGCTTTCACCGTGTTAAGAATAAATATGCACTAATTAAT... |
Task1_train_25777 | This sequence variant lies in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Marden-Walker syndrome | GGCTTTGCAGGTTTCCCTCTCGTTCTCTTGGAATGTGCTGCCACGAGGGGAAGAAGCCTGGGCTTGTCTCCCTAAGGATGAGCGAATACATGGAGAGAGAGGCCTGGCTAAGAGCCAGATGCAACCTGCAGGTGTCTGAGTGACACCATCGAATAACACCCAGTTGGGCCACCAGACGATAGCAGCCACAGGACTGACTCCAGGCAAGACTATCCAGTGGAGCCCAGCCCACACTGCTGACCTACATAATTGTGAGCAAATAAAATGATTGTTTATTTTATTTTACTTTATTTTATTTGATTTTATTTTACTTTAAGTTC... | GGCTTTGCAGGTTTCCCTCTCGTTCTCTTGGAATGTGCTGCCACGAGGGGAAGAAGCCTGGGCTTGTCTCCCTAAGGATGAGCGAATACATGGAGAGAGAGGCCTGGCTAAGAGCCAGATGCAACCTGCAGGTGTCTGAGTGACACCATCGAATAACACCCAGTTGGGCCACCAGACGATAGCAGCCACAGGACTGACTCCAGGCAAGACTATCCAGTGGAGCCCAGCCCACACTGCTGACCTACATAATTGTGAGCAAATAAAATGATTGTTTATTTTATTTTACTTTATTTTATTTGATTTTATTTTACTTTAAGTTC... |
Task1_train_25778 | Here is a mutation in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AATTATTATAAAGCAATAATTCCTATACTGAAATCGAACGGTCAGAACCTAAACACTCAAACAAAAGCAGCCATTAGGCTCTGGCTACTGTTAGAAGCAATTTGGATTTTCTCAATAGGAATTACACTTGAACTGGTTTACTTATGAGCCACATACGTAAAATCCATTTTTTTTATTACTTTCTATTCATTCTTCCCAAATGATATTAGCCTGCCTGTTTGATATGTTATTCATAAGACTTGGCTACAAATGACTCAGAGGTGTGATCAAAAGATCAAATTTTCTGTTAAGCATGAAGATTTTCAGAGATACCTGAGGAT... | AATTATTATAAAGCAATAATTCCTATACTGAAATCGAACGGTCAGAACCTAAACACTCAAACAAAAGCAGCCATTAGGCTCTGGCTACTGTTAGAAGCAATTTGGATTTTCTCAATAGGAATTACACTTGAACTGGTTTACTTATGAGCCACATACGTAAAATCCATTTTTTTTATTACTTTCTATTCATTCTTCCCAAATGATATTAGCCTGCCTGTTTGATATGTTATTCATAAGACTTGGCTACAAATGACTCAGAGGTGTGATCAAAAGATCAAATTTTCTGTTAAGCATGAAGATTTTCAGAGATACCTGAGGAT... |
Task1_train_25779 | Gene PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | TATAAAGCAATAATTCCTATACTGAAATCGAACGGTCAGAACCTAAACACTCAAACAAAAGCAGCCATTAGGCTCTGGCTACTGTTAGAAGCAATTTGGATTTTCTCAATAGGAATTACACTTGAACTGGTTTACTTATGAGCCACATACGTAAAATCCATTTTTTTTATTACTTTCTATTCATTCTTCCCAAATGATATTAGCCTGCCTGTTTGATATGTTATTCATAAGACTTGGCTACAAATGACTCAGAGGTGTGATCAAAAGATCAAATTTTCTGTTAAGCATGAAGATTTTCAGAGATACCTGAGGATGTTTAA... | TATAAAGCAATAATTCCTATACTGAAATCGAACGGTCAGAACCTAAACACTCAAACAAAAGCAGCCATTAGGCTCTGGCTACTGTTAGAAGCAATTTGGATTTTCTCAATAGGAATTACACTTGAACTGGTTTACTTATGAGCCACATACGTAAAATCCATTTTTTTTATTACTTTCTATTCATTCTTCCCAAATGATATTAGCCTGCCTGTTTGATATGTTATTCATAAGACTTGGCTACAAATGACTCAGAGGTGTGATCAAAAGATCAAATTTTCTGTTAAGCATGAAGATTTTCAGAGATACCTGAGGATGTTTAA... |
Task1_train_25780 | The gene PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Arthrogryposis, distal, with impaired proprioception and touch | CAGTTCTTCCTAGGCTCAAACCATTTAGGGGATTACTCTTATCTTTATATGCCTCTCCCAGAATAGAGCCCAGGGCTTGGCACAGAATAGCTGATACTCAACATGTTTAATGAAAAACATAAAACATGAATGTTCTCAGTGATACAATTCTTTACCCATGAAGGTGGCTATAAGGTGTAATTCATTTGGTCTAGCGCTTCACCCTAACAAGGCGATTTTTCCTCCTAAGACAGGGACTTCTGCTTTAATTTAGAATCTAGCTCTGTACAATTGTTATCAGCTATCTAGAACACTGTGATGCAAAGAATTCTGAGGCTTTT... | CAGTTCTTCCTAGGCTCAAACCATTTAGGGGATTACTCTTATCTTTATATGCCTCTCCCAGAATAGAGCCCAGGGCTTGGCACAGAATAGCTGATACTCAACATGTTTAATGAAAAACATAAAACATGAATGTTCTCAGTGATACAATTCTTTACCCATGAAGGTGGCTATAAGGTGTAATTCATTTGGTCTAGCGCTTCACCCTAACAAGGCGATTTTTCCTCCTAAGACAGGGACTTCTGCTTTAATTTAGAATCTAGCTCTGTACAATTGTTATCAGCTATCTAGAACACTGTGATGCAAAGAATTCTGAGGCTTTT... |
Task1_train_25781 | An alteration has been detected in PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AAAGAAGTAATTAATGAAATATTTGGCACAATTAATAAGTCCATCATCTAGATGTAGTCTTGTAATGTCATGAAAGATAGTTCTAGACACAGGGGCCGTCAGGTTATTTCGACCTCGATAGTATTCCTGATGGCGGTAAATGGTGACTTCAAAGGCCAGGATAGCCAGCATCAGGAGGTTATTCTACAAAGCAAGGAAACACAAATGTGTCAGCCAGAGGCTTTATGATTTGGTAATTTCAAGCAATCCCCACATTCTGCACAGCTACAAGGACAATGTTTTATAAAAGCTCACCTCTCTTAAGCAGTTTTGAGCTCAAT... | AAAGAAGTAATTAATGAAATATTTGGCACAATTAATAAGTCCATCATCTAGATGTAGTCTTGTAATGTCATGAAAGATAGTTCTAGACACAGGGGCCGTCAGGTTATTTCGACCTCGATAGTATTCCTGATGGCGGTAAATGGTGACTTCAAAGGCCAGGATAGCCAGCATCAGGAGGTTATTCTACAAAGCAAGGAAACACAAATGTGTCAGCCAGAGGCTTTATGATTTGGTAATTTCAAGCAATCCCCACATTCTGCACAGCTACAAGGACAATGTTTTATAAAAGCTCACCTCTCTTAAGCAGTTTTGAGCTCAAT... |
Task1_train_25782 | With a mutation on Chromosome 18 in gene PIEZO2 (piezo type mechanosensitive ion channel component 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | CCTGCATAGGCTAAACACTGCTATACACGCTTAAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGTTTGATTGCGTGACAGAAGACTCAGACACATCCACATTAAGAAAAATGGCAAGAAAAAGGTTCCTGCATGCTGGAGGCACTTTTAGTGAGAAAAAAAAATGAATATGCAAGAGAAGAAATGGCATTTGGAAGAAAAAA... | CCTGCATAGGCTAAACACTGCTATACACGCTTAAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGTTTGATTGCGTGACAGAAGACTCAGACACATCCACATTAAGAAAAATGGCAAGAAAAAGGTTCCTGCATGCTGGAGGCACTTTTAGTGAGAAAAAAAAATGAATATGCAAGAGAAGAAATGGCATTTGGAAGAAAAAA... |
Task1_train_25783 | Mutation context: Chromosome 18, Gene PIEZO2 (piezo type mechanosensitive ion channel component 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | AAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGTTTGATTGCGTGACAGAAGACTCAGACACATCCACATTAAGAAAAATGGCAAGAAAAAGGTTCCTGCATGCTGGAGGCACTTTTAGTGAGAAAAAAAAATGAATATGCAAGAGAAGAAATGGCATTTGGAAGAAAAAAAAGATTTTTTTTTAAAAAAGATTTCACTAGCA... | AAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGTTTGATTGCGTGACAGAAGACTCAGACACATCCACATTAAGAAAAATGGCAAGAAAAAGGTTCCTGCATGCTGGAGGCACTTTTAGTGAGAAAAAAAAATGAATATGCAAGAGAAGAAATGGCATTTGGAAGAAAAAAAAGATTTTTTTTTAAAAAAGATTTCACTAGCA... |
Task1_train_25784 | Here is a variant affecting PIEZO2 (piezo type mechanosensitive ion channel component 2) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | CACAGGCCTGGGAAGTTCTCAAACTGATATGTGTATATAAAGATAAGCACCAGCATAGTGTAAATAACCACTGACATCCAAAAATATTTTAGAATTTTCCTCCACCATTCATAGTGCACCTGCAAATCAGACATTGAAAAAAAAAAATGAGAAAAAATCACTTTTAGGAAAACTCACAAAAATATTTGGTTTAATTCAAGTAAGACAAGTGATACATTTACAAGTGTCTGAAAATAAAGTCTATTTCATTTCTAGTTTTTAATGTTCCGTGTCTATCACAGTGGAGTGGTCCTGGGTTAGAACCCCAGTTTTATAAATGA... | CACAGGCCTGGGAAGTTCTCAAACTGATATGTGTATATAAAGATAAGCACCAGCATAGTGTAAATAACCACTGACATCCAAAAATATTTTAGAATTTTCCTCCACCATTCATAGTGCACCTGCAAATCAGACATTGAAAAAAAAAAATGAGAAAAAATCACTTTTAGGAAAACTCACAAAAATATTTGGTTTAATTCAAGTAAGACAAGTGATACATTTACAAGTGTCTGAAAATAAAGTCTATTTCATTTCTAGTTTTTAATGTTCCGTGTCTATCACAGTGGAGTGGTCCTGGGTTAGAACCCCAGTTTTATAAATGA... |
Task1_train_25785 | This variant affects the gene PIEZO2 (piezo type mechanosensitive ion channel component 2) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | CACAGGCCTGGGAAGTTCTCAAACTGATATGTGTATATAAAGATAAGCACCAGCATAGTGTAAATAACCACTGACATCCAAAAATATTTTAGAATTTTCCTCCACCATTCATAGTGCACCTGCAAATCAGACATTGAAAAAAAAAAATGAGAAAAAATCACTTTTAGGAAAACTCACAAAAATATTTGGTTTAATTCAAGTAAGACAAGTGATACATTTACAAGTGTCTGAAAATAAAGTCTATTTCATTTCTAGTTTTTAATGTTCCGTGTCTATCACAGTGGAGTGGTCCTGGGTTAGAACCCCAGTTTTATAAATGA... | CACAGGCCTGGGAAGTTCTCAAACTGATATGTGTATATAAAGATAAGCACCAGCATAGTGTAAATAACCACTGACATCCAAAAATATTTTAGAATTTTCCTCCACCATTCATAGTGCACCTGCAAATCAGACATTGAAAAAAAAAAATGAGAAAAAATCACTTTTAGGAAAACTCACAAAAATATTTGGTTTAATTCAAGTAAGACAAGTGATACATTTACAAGTGTCTGAAAATAAAGTCTATTTCATTTCTAGTTTTTAATGTTCCGTGTCTATCACAGTGGAGTGGTCCTGGGTTAGAACCCCAGTTTTATAAATGA... |
Task1_train_25786 | This variant affects the gene GNAL (G protein subunit alpha L) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dystonic disorder | CTCTTATGTGAACTTTTATAAAATCTGGTGTCTGTGGTTCCTGTGTTTGGATAAATCCAGTTAAATTTGTTTCAATGTAGCATGAGTCTATAGTTTTTATATATCATACGTCTGTCGTGTCCAGAGAAATCAGGTGCCCAGAGCTGGCAACTGGAAGACCCATCACCATGAGGCAGCGATGTCACTCTCTTCATGGCCAACTTGATAACGGCATAATGCAGGATTGATCTTTACACGTGTGTGTGTGTGACGTGTGCGTGTGTATGGACTTGGATGGCTCTTCGAAGGAAATCTTTTTAAGGAAACCTACAAACTCCTTT... | CTCTTATGTGAACTTTTATAAAATCTGGTGTCTGTGGTTCCTGTGTTTGGATAAATCCAGTTAAATTTGTTTCAATGTAGCATGAGTCTATAGTTTTTATATATCATACGTCTGTCGTGTCCAGAGAAATCAGGTGCCCAGAGCTGGCAACTGGAAGACCCATCACCATGAGGCAGCGATGTCACTCTCTTCATGGCCAACTTGATAACGGCATAATGCAGGATTGATCTTTACACGTGTGTGTGTGTGACGTGTGCGTGTGTATGGACTTGGATGGCTCTTCGAAGGAAATCTTTTTAAGGAAACCTACAAACTCCTTT... |
Task1_train_25787 | This variant impacts the gene GNAL (G protein subunit alpha L) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dystonia 25 | GTGTCTGTGGTTCCTGTGTTTGGATAAATCCAGTTAAATTTGTTTCAATGTAGCATGAGTCTATAGTTTTTATATATCATACGTCTGTCGTGTCCAGAGAAATCAGGTGCCCAGAGCTGGCAACTGGAAGACCCATCACCATGAGGCAGCGATGTCACTCTCTTCATGGCCAACTTGATAACGGCATAATGCAGGATTGATCTTTACACGTGTGTGTGTGTGACGTGTGCGTGTGTATGGACTTGGATGGCTCTTCGAAGGAAATCTTTTTAAGGAAACCTACAAACTCCTTTACTGGGTTAATGGGAGCATCAGAGGAA... | GTGTCTGTGGTTCCTGTGTTTGGATAAATCCAGTTAAATTTGTTTCAATGTAGCATGAGTCTATAGTTTTTATATATCATACGTCTGTCGTGTCCAGAGAAATCAGGTGCCCAGAGCTGGCAACTGGAAGACCCATCACCATGAGGCAGCGATGTCACTCTCTTCATGGCCAACTTGATAACGGCATAATGCAGGATTGATCTTTACACGTGTGTGTGTGTGACGTGTGCGTGTGTATGGACTTGGATGGCTCTTCGAAGGAAATCTTTTTAAGGAAACCTACAAACTCCTTTACTGGGTTAATGGGAGCATCAGAGGAA... |
Task1_train_25788 | The gene GNAL (G protein subunit alpha L) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Dystonic disorder | TGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTATCCTAGAACTTACAGTATAATAAAATATATATATATTAAAAATATATATATATAACCTACTCATTTTAGTGTCCATAAGTTTTTTTTTTAATGCTCAAGAGAAGCCTGACTATTGCTAAAATAGGTCTATCCCCGTGAGGAGTTTCATACCTCATGACATCTTTAGGATACCCTTTCTGTGGTCCAAGCAGCTCTCTAAAGGCTGTTTCCCAGGATCGAAAAAGGAGTGGAGGGGAT... | TGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTATCCTAGAACTTACAGTATAATAAAATATATATATATTAAAAATATATATATATAACCTACTCATTTTAGTGTCCATAAGTTTTTTTTTTAATGCTCAAGAGAAGCCTGACTATTGCTAAAATAGGTCTATCCCCGTGAGGAGTTTCATACCTCATGACATCTTTAGGATACCCTTTCTGTGGTCCAAGCAGCTCTCTAAAGGCTGTTTCCCAGGATCGAAAAAGGAGTGGAGGGGAT... |
Task1_train_25789 | This alteration in TUBB6 (tubulin beta 6 class V) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | CCTGGAAACAATTTGAGGGCAGGAATTACTTCCTGTGCTTAGTATTTAATTATAGGGGCAGAATAAATAATTGGTTCTGCAAACATTTTGCAACAGTAATTCTGGATGATGAATGAGGGGCTCCATTAACATGAAAAAGTGTCAAGTTTTAAAAATAAAATACTTGGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATATTAGCCAGGAGTGGTGGCAGG... | CCTGGAAACAATTTGAGGGCAGGAATTACTTCCTGTGCTTAGTATTTAATTATAGGGGCAGAATAAATAATTGGTTCTGCAAACATTTTGCAACAGTAATTCTGGATGATGAATGAGGGGCTCCATTAACATGAAAAAGTGTCAAGTTTTAAAAATAAAATACTTGGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATATTAGCCAGGAGTGGTGGCAGG... |
Task1_train_25790 | Chromosome 18 houses a mutation in gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GTCACATGTGGATTCAATGGGCAAAAATCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCAC... | GTCACATGTGGATTCAATGGGCAAAAATCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCAC... |
Task1_train_25791 | Gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spinocerebellar ataxia type 28 | TGGGCAAAAATCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTC... | TGGGCAAAAATCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTC... |
Task1_train_25792 | A mutation found in AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spinocerebellar ataxia type 28 | TCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCT... | TCAAGAATGCGACCACTCACCTTCACCACCTACCCTCCCCTTTTCTCCCTTCCTCCTTCCCTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCT... |
Task1_train_25793 | A variant was discovered on Chromosome 18, affecting AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spinocerebellar ataxia type 28 | CTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCA... | CTTCCTGCCACTCTTTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCA... |
Task1_train_25794 | This sequence variant lies in AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Spinocerebellar ataxia type 28 | TTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCACTCTGCCCATGCTG... | TTCCCCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCACTCTGCCCATGCTG... |
Task1_train_25795 | The gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCACTCTGCCCATGCTGGCCT... | CCTTTAAATATTCAAGCCCTCGAAGCTCTCTCTGGAAAAAGCAGGGACCACAGATCCCCTGTAACTGGTGTTTCTTTTTCCCTGGGTACATCCTCAACCTTGACGAAACAAACCTCTAAGCTGACAGAGATCTGTCTCAGCCACTCTTGGGTCTACAGGGTCCACCACCTGCAAGTGCAGCAGGCTCAGGGCTGCCCCCGGGCTCCACGCCGCACACTCTTCCTTCCCCTTCCTTCAGCTCTATGACCTGCTCATCCTTCTGGGTACCTCGGCCCTATCTCCTGCAGAGCCGTCCTGGACCACTCTGCCCATGCTGGCCT... |
Task1_train_25796 | A variant has been detected on Chromosome 18 in AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spastic ataxia 5 | CAAGAAGCATCTGATAGACCTGAAGAAACAAGAACCCCCAGCTGCCAACAGGTTCTTCCCAGAAGGATGGCATGCCACTCACGCTGAGAACATGTGAGACCAGAAGGGCAACTGCATTTCCCCGTTCACTGAGTCCATGGGGCCCAGGGAACAGTCTGAAGAAGCTGATCCAGTCTGGACCCATGAGCCCCCAAAACTAACCAGCACCACAAAGGAGGAGGCTTCTGCAAGTAAGACCCAAACTCACTGGAAAAAAGAGAAGGCCCAGATAAGAGTGGGGATCAAACAGCCAGGGATGCTTGGAAGGTAGGAAACCACAT... | CAAGAAGCATCTGATAGACCTGAAGAAACAAGAACCCCCAGCTGCCAACAGGTTCTTCCCAGAAGGATGGCATGCCACTCACGCTGAGAACATGTGAGACCAGAAGGGCAACTGCATTTCCCCGTTCACTGAGTCCATGGGGCCCAGGGAACAGTCTGAAGAAGCTGATCCAGTCTGGACCCATGAGCCCCCAAAACTAACCAGCACCACAAAGGAGGAGGCTTCTGCAAGTAAGACCCAAACTCACTGGAAAAAAGAGAAGGCCCAGATAAGAGTGGGGATCAAACAGCCAGGGATGCTTGGAAGGTAGGAAACCACAT... |
Task1_train_25797 | Consider a variant on Chromosome 18 in gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). Determine its clinical classification and disease relevance. | Pathogenic; Spastic ataxia 5 | TGATAGACCTGAAGAAACAAGAACCCCCAGCTGCCAACAGGTTCTTCCCAGAAGGATGGCATGCCACTCACGCTGAGAACATGTGAGACCAGAAGGGCAACTGCATTTCCCCGTTCACTGAGTCCATGGGGCCCAGGGAACAGTCTGAAGAAGCTGATCCAGTCTGGACCCATGAGCCCCCAAAACTAACCAGCACCACAAAGGAGGAGGCTTCTGCAAGTAAGACCCAAACTCACTGGAAAAAAGAGAAGGCCCAGATAAGAGTGGGGATCAAACAGCCAGGGATGCTTGGAAGGTAGGAAACCACATTCCTAACATTT... | TGATAGACCTGAAGAAACAAGAACCCCCAGCTGCCAACAGGTTCTTCCCAGAAGGATGGCATGCCACTCACGCTGAGAACATGTGAGACCAGAAGGGCAACTGCATTTCCCCGTTCACTGAGTCCATGGGGCCCAGGGAACAGTCTGAAGAAGCTGATCCAGTCTGGACCCATGAGCCCCCAAAACTAACCAGCACCACAAAGGAGGAGGCTTCTGCAAGTAAGACCCAAACTCACTGGAAAAAAGAGAAGGCCCAGATAAGAGTGGGGATCAAACAGCCAGGGATGCTTGGAAGGTAGGAAACCACATTCCTAACATTT... |
Task1_train_25798 | A variant affecting Chromosome 18, within the gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Optic atrophy 12 | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... |
Task1_train_25799 | A mutation found in AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spastic paraparesis | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... |
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