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_1000 | Gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis 2 | AGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTT... | AGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTT... |
Task1_train_1001 | A variant was discovered in gene RPE65 (retinoid isomerohydrolase RPE65), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 20 | AGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTT... | AGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTT... |
Task1_train_1002 | This alteration occurs within gene RPE65 (retinoid isomerohydrolase RPE65) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Leber congenital amaurosis 2 | GAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTAC... | GAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTAC... |
Task1_train_1003 | Here is a mutation in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 20 | GAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTAC... | GAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTAC... |
Task1_train_1004 | Chromosome 1 houses a mutation in gene RPE65 (retinoid isomerohydrolase RPE65). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive retinitis pigmentosa | AAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACT... | AAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACT... |
Task1_train_1005 | Here’s a variant in RPE65 (retinoid isomerohydrolase RPE65) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; RPE65-related recessive retinopathy | ACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCC... | ACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCC... |
Task1_train_1006 | This mutation is located in gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; RPE65-related recessive retinopathy | CACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCC... | CACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCC... |
Task1_train_1007 | A variant was discovered in gene RPE65 (retinoid isomerohydrolase RPE65), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Leber congenital amaurosis 2 | CAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCCATTAGCTAAACAACATATTCCAAA... | CAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCCATTAGCTAAACAACATATTCCAAA... |
Task1_train_1008 | The variant affects gene RPE65 (retinoid isomerohydrolase RPE65), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 20 | CAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCCATTAGCTAAACAACATATTCCAAA... | CAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTACTCATACTACTTCTTTGAGCAAAAACTTTCAGTAGCTTCCCATTAGCTAAACAACATATTCCAAA... |
Task1_train_1009 | The gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leber congenital amaurosis | AACAAATGAATTTTTCAGTCCAGTAATTTTCAAGCCATGAGAGAAAAAGGGCTAATATAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAA... | AACAAATGAATTTTTCAGTCCAGTAATTTTCAAGCCATGAGAGAAAAAGGGCTAATATAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAA... |
Task1_train_1010 | Gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; RPE65-related recessive retinopathy | TTTCAAGCCATGAGAGAAAAAGGGCTAATATAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCT... | TTTCAAGCCATGAGAGAAAAAGGGCTAATATAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCT... |
Task1_train_1011 | This variant impacts the gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinitis pigmentosa 20 | TAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGA... | TAAAATGTCTTGAGTAACATTCAGTTTGGGTTCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGA... |
Task1_train_1012 | A genetic alteration is present in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 20 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1013 | Consider a variant on Chromosome 1 in gene RPE65 (retinoid isomerohydrolase RPE65). Determine its clinical classification and disease relevance. | Pathogenic; Leber congenital amaurosis 2 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1014 | Here is a variant affecting RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RPE65-related disorder | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1015 | This alteration occurs within gene RPE65 (retinoid isomerohydrolase RPE65) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinitis pigmentosa 20 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1016 | Here’s a variant in RPE65 (retinoid isomerohydrolase RPE65) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leber congenital amaurosis 2 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1017 | The gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa 20 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1018 | A sequence alteration has been identified in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Leber congenital amaurosis 2 | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... | CTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACC... |
Task1_train_1019 | The variant affects gene RPE65 (retinoid isomerohydrolase RPE65), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; RPE65-related recessive retinopathy | TCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACCTCACAGATGAGGA... | TCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACCTCACAGATGAGGA... |
Task1_train_1020 | This mutation occurs in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Leber congenital amaurosis 2 | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... |
Task1_train_1021 | With a mutation on Chromosome 1 in gene RPE65 (retinoid isomerohydrolase RPE65), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa 20 | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... |
Task1_train_1022 | A variant was discovered in gene RPE65 (retinoid isomerohydrolase RPE65), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Leber congenital amaurosis 2 | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... | GGCCCAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTAT... |
Task1_train_1023 | A mutation in RPE65 (retinoid isomerohydrolase RPE65), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RPE65-related recessive retinopathy | GTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGT... | GTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGT... |
Task1_train_1024 | The variant affects gene CTH (cystathionine gamma-lyase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cystathioninuria | ATAGTTACAATAAGATACTGTATATATCAAAATAGGAGAGAGGATTTTAAATGTTTCTACTACAAAGAAATGATAAATATTTGAGATGATGGGCATGCTAATTACCCTGCTTTTGATCATTACACAATTACACATGTATTGAGCATCACATTATACTCCATGACTTAAAGGATTAATTTACAGGAAAATTGGGTGAAAGAAAACACTTTTAAAAATTCCTTTTCATTTTTATTTTTCTTAATTCTCCCAGTTTCAGACATATTTATTTATTTATTTATTTATTTATTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGG... | ATAGTTACAATAAGATACTGTATATATCAAAATAGGAGAGAGGATTTTAAATGTTTCTACTACAAAGAAATGATAAATATTTGAGATGATGGGCATGCTAATTACCCTGCTTTTGATCATTACACAATTACACATGTATTGAGCATCACATTATACTCCATGACTTAAAGGATTAATTTACAGGAAAATTGGGTGAAAGAAAACACTTTTAAAAATTCCTTTTCATTTTTATTTTTCTTAATTCTCCCAGTTTCAGACATATTTATTTATTTATTTATTTATTTATTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGG... |
Task1_train_1025 | A mutation found in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | TTAAGTTATCATTTCTACGTTCGTCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTCCTTTGT... | TTAAGTTATCATTTCTACGTTCGTCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTCCTTTGT... |
Task1_train_1026 | Consider this mutation in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | TCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTCCTTTGTTCTCCTCTGTCTTTGCCTCTTTT... | TCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTCCTTTGTTCTCCTCTGTCTTTGCCTCTTTT... |
Task1_train_1027 | With a mutation on Chromosome 1 in gene ACADM (acyl-CoA dehydrogenase medium chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | AGCTTCCTGAGCAGTTAGGACAATAGGTCCATGTCAACCACACCTAGCTGATTTTTTAAATTTTTAAATGTTTTGTTGAGACAGGATCTTGCTATATTGCTCAGGCTGGCCCCAAACTCCTGGCCTCAAATGGTTCACCTGCCTCAGCCTCCCAAAATTCTAGAATTATAGGCATGAGCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTG... | AGCTTCCTGAGCAGTTAGGACAATAGGTCCATGTCAACCACACCTAGCTGATTTTTTAAATTTTTAAATGTTTTGTTGAGACAGGATCTTGCTATATTGCTCAGGCTGGCCCCAAACTCCTGGCCTCAAATGGTTCACCTGCCTCAGCCTCCCAAAATTCTAGAATTATAGGCATGAGCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTG... |
Task1_train_1028 | A variant affecting Chromosome 1, within the gene ACADM (acyl-CoA dehydrogenase medium chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCG... | CCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCG... |
Task1_train_1029 | The following genetic variant occurs in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGC... | CAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGC... |
Task1_train_1030 | This variant impacts the gene ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | ATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGGCACCTGTAGT... | ATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGGCACCTGTAGT... |
Task1_train_1031 | Given this variant in gene ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | TGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGGCACCTGTAGTCCCAGCT... | TGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGGCACCTGTAGTCCCAGCT... |
Task1_train_1032 | This gene mutation involves ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACC... | GTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACC... |
Task1_train_1033 | A sequence alteration has been identified in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GAGGGAAAAATCTTTTACATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTG... | GAGGGAAAAATCTTTTACATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTG... |
Task1_train_1034 | A genomic change on Chromosome 1 affects ACADM (acyl-CoA dehydrogenase medium chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | TAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAAC... | TAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAAC... |
Task1_train_1035 | An alteration has been detected in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTGGT... | CAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTGGT... |
Task1_train_1036 | A genetic alteration is present in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; ACADM-related disorder | CAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTGGT... | CAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTGGT... |
Task1_train_1037 | A variant affecting Chromosome 1, within the gene ACADM (acyl-CoA dehydrogenase medium chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | AGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCACGCCTGCCTAATTTTTTGTATGTTTAGTAGAGACAAGATTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAATGTGCTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAAGTATTGTTATTATTTTTTTTTTCTGAAATGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTCCT... | AGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCACGCCTGCCTAATTTTTTGTATGTTTAGTAGAGACAAGATTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAATGTGCTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAAGTATTGTTATTATTTTTTTTTTCTGAAATGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTCCT... |
Task1_train_1038 | A mutation on Chromosome 1 affecting ACADM (acyl-CoA dehydrogenase medium chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCC... | GCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCC... |
Task1_train_1039 | The variant affects gene ACADM (acyl-CoA dehydrogenase medium chain), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCAT... | CCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCAT... |
Task1_train_1040 | Given a variant located on Chromosome 1 and affecting ACADM (acyl-CoA dehydrogenase medium chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATC... | CACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATC... |
Task1_train_1041 | The following genetic variant occurs in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTG... | GGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTG... |
Task1_train_1042 | This genomic variant is located on Chromosome 1, within the ACADM (acyl-CoA dehydrogenase medium chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | GATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTGCCAGCTCCTGGCTCA... | GATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTGCCAGCTCCTGGCTCA... |
Task1_train_1043 | Assess the clinical impact of this variant on gene ACADM (acyl-CoA dehydrogenase medium chain), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTGCCAGCTCCTGGCTCA... | GATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAATGCACTGCCGCATCCTGTTCATTTTCTCCTGATGTTCTGAATGCAGACCTTTGCCAGCTCCTGGCTCA... |
Task1_train_1044 | A sequence alteration has been identified in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | AAATTACTTTCTGGTGAGTGATAGAGATAATTATATTGTGTATATTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCC... | AAATTACTTTCTGGTGAGTGATAGAGATAATTATATTGTGTATATTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCC... |
Task1_train_1045 | Here is a mutation in ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GGTGAGTGATAGAGATAATTATATTGTGTATATTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGG... | GGTGAGTGATAGAGATAATTATATTGTGTATATTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGG... |
Task1_train_1046 | A variant has been detected on Chromosome 1 in ACADM (acyl-CoA dehydrogenase medium chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGAGTGAGACCTAATGTTTTCAAATCTTTTGTGTTTTAGAAATTATATGGT... | GGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGAGTGAGACCTAATGTTTTCAAATCTTTTGTGTTTTAGAAATTATATGGT... |
Task1_train_1047 | The gene ACADM (acyl-CoA dehydrogenase medium chain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATT... | ACACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATT... |
Task1_train_1048 | The gene ACADM (acyl-CoA dehydrogenase medium chain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAG... | CACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAG... |
Task1_train_1049 | The gene ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCT... | GAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCT... |
Task1_train_1050 | The gene ACADM (acyl-CoA dehydrogenase medium chain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | GACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAA... | GACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAA... |
Task1_train_1051 | Given this variant in gene ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAAC... | ACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAAC... |
Task1_train_1052 | Consider a variant on Chromosome 1 in gene ACADM (acyl-CoA dehydrogenase medium chain). Determine its clinical classification and disease relevance. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTA... | ACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTA... |
Task1_train_1053 | Given a variant located on Chromosome 1 and affecting ACADM (acyl-CoA dehydrogenase medium chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATT... | CTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATT... |
Task1_train_1054 | This gene mutation involves ACADM (acyl-CoA dehydrogenase medium chain) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | CTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGT... | CTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGT... |
Task1_train_1055 | Gene ACADM (acyl-CoA dehydrogenase medium chain), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | AGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTTTC... | AGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTTTC... |
Task1_train_1056 | A change on Chromosome 1 affects gene ACADM (acyl-CoA dehydrogenase medium chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Medium-chain acyl-coenzyme A dehydrogenase deficiency | TATAATAGCCTGGGAAAGAATAAGAAGAAATAACTAAATTCAACGTATAATGGTGGAAAAAGAACATTAGTAGAAAACTTGACCAGATTTGAGTAAGGCTTATAGTTTAGTTGTTAATACTATACCAGTGTTAATGTCCTGTTCTCGATCATGGCACTATGGTTTGGTAATATGTTAACATTAGAGGAAGCTGGGTGTAACTTCTATAAACCTAAAATTCGTTAATGAAAAGTTTAAAAAATAAAAAGGTCAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCTAAGTAGGAGGATTGCTTGAGGCCA... | TATAATAGCCTGGGAAAGAATAAGAAGAAATAACTAAATTCAACGTATAATGGTGGAAAAAGAACATTAGTAGAAAACTTGACCAGATTTGAGTAAGGCTTATAGTTTAGTTGTTAATACTATACCAGTGTTAATGTCCTGTTCTCGATCATGGCACTATGGTTTGGTAATATGTTAACATTAGAGGAAGCTGGGTGTAACTTCTATAAACCTAAAATTCGTTAATGAAAAGTTTAAAAAATAAAAAGGTCAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCTAAGTAGGAGGATTGCTTGAGGCCA... |
Task1_train_1057 | A variant on Chromosome 1 in gene PIGK (phosphatidylinositol glycan anchor biosynthesis class K) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | AACGTACAGAATGAGAGAAAATATTTGCAATTCATCCACCTGACAAGCAATTAATAACCAGAAAATATAAGGAATTTGAAACAACTCAATGGCAAAAAACAAAACAAAACAAAACAAAAAAACAAAAAAACAAAAAAAATCTAATTATAAAATGGGCAAATCATCTGAATAGACATTTCACAGAAGAAGACAACAGGTATATGAAAAAATGCTCAAAATCACTAATCATCAAAGAAATGCAAATCAAAACTACAAGATATCATCTCATCTCAGTTAGCTTATAAAAAAGACCAAAAAATAACAAATGCTGGCAAGGATGT... | AACGTACAGAATGAGAGAAAATATTTGCAATTCATCCACCTGACAAGCAATTAATAACCAGAAAATATAAGGAATTTGAAACAACTCAATGGCAAAAAACAAAACAAAACAAAACAAAAAAACAAAAAAACAAAAAAAATCTAATTATAAAATGGGCAAATCATCTGAATAGACATTTCACAGAAGAAGACAACAGGTATATGAAAAAATGCTCAAAATCACTAATCATCAAAGAAATGCAAATCAAAACTACAAGATATCATCTCATCTCAGTTAGCTTATAAAAAAGACCAAAAAATAACAAATGCTGGCAAGGATGT... |
Task1_train_1058 | Here is a genetic alteration in PIGK (phosphatidylinositol glycan anchor biosynthesis class K) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | AGACATGGAGTCAAAGGAGATCATTTTGGAACTTTAAGGTTTAATGACTGCCCTATTGGATTTCTACATGGGGCCTGTAGTGCCTTCGTTTTGGCCAATTTCTCCCAAGTGGAACAGGTGTATTTACCCAATGCCTGTACCCCCATTGTATCTAGGAAGTAACTAACTTGCTTTTGATTTTGCAGGCTCACAGGCAGAAGGGACTTGTCTTGTCTCAGATGAGACTTTGGACTGTGGACTTTGAGTTAATGATGAAATGAGTTAAGACTTTGGAGTACTGTTGGGAAGGCACGATTGGTTTTGAAATACGAGAATAGGAG... | AGACATGGAGTCAAAGGAGATCATTTTGGAACTTTAAGGTTTAATGACTGCCCTATTGGATTTCTACATGGGGCCTGTAGTGCCTTCGTTTTGGCCAATTTCTCCCAAGTGGAACAGGTGTATTTACCCAATGCCTGTACCCCCATTGTATCTAGGAAGTAACTAACTTGCTTTTGATTTTGCAGGCTCACAGGCAGAAGGGACTTGTCTTGTCTCAGATGAGACTTTGGACTGTGGACTTTGAGTTAATGATGAAATGAGTTAAGACTTTGGAGTACTGTTGGGAAGGCACGATTGGTTTTGAAATACGAGAATAGGAG... |
Task1_train_1059 | This mutation occurs in PIGK (phosphatidylinositol glycan anchor biosynthesis class K) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | AGGGCAGATCGCTTAGTAAGTGTAAGCACATACGAGATTTCAGTTCCCACTTAACACCCTGGCCAGATTCTTGGGTGCACTATACAACCCACACAACCACATACAGCAACCTTGAATATCGGCACCTAAGTCAATGCACTGCTGTGAGAATGAAATGAGTTAATAGCCACAATGATTTAGAATACTGCCTGACGTATACTATGCCTCCATAAATATTATTATCATATTATCATAATTATCAACGTTTTTATTCTCTTACAGACCCTGGCAACCTTCTACAAAAGATCAGGTAGTAAATATTTTTGGCTTGTGAGCCATAT... | AGGGCAGATCGCTTAGTAAGTGTAAGCACATACGAGATTTCAGTTCCCACTTAACACCCTGGCCAGATTCTTGGGTGCACTATACAACCCACACAACCACATACAGCAACCTTGAATATCGGCACCTAAGTCAATGCACTGCTGTGAGAATGAAATGAGTTAATAGCCACAATGATTTAGAATACTGCCTGACGTATACTATGCCTCCATAAATATTATTATCATATTATCATAATTATCAACGTTTTTATTCTCTTACAGACCCTGGCAACCTTCTACAAAAGATCAGGTAGTAAATATTTTTGGCTTGTGAGCCATAT... |
Task1_train_1060 | This variant impacts the gene PIGK (phosphatidylinositol glycan anchor biosynthesis class K) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | TTAGAAAAAAACAAAAAACAAAAACAAGCAAAGTAAAACTACCTTGGAGAAAAATAAGTTCTGAATTTAAAACTTTAAATGCTATGTGAAGTGCTGCCTTTAAAAACTACTAAAAAGCTGCAAAATTATTTATCTGGCTGGGCATGATGGCTCACACCTGTAATTCCAACTTCTCAGGAGGCTGAGGCAGGAGGATCACCTGAGGCCAAGTGTTCAAAAACAGCCTGGACAACCTAGTAAGACCCCCATCTCTGGAAAAATAAAATAAATTAGCCAGGCAAGGTGGTGCACACCTGTAGTCCCTGCTACTCAGGAGGCTG... | TTAGAAAAAAACAAAAAACAAAAACAAGCAAAGTAAAACTACCTTGGAGAAAAATAAGTTCTGAATTTAAAACTTTAAATGCTATGTGAAGTGCTGCCTTTAAAAACTACTAAAAAGCTGCAAAATTATTTATCTGGCTGGGCATGATGGCTCACACCTGTAATTCCAACTTCTCAGGAGGCTGAGGCAGGAGGATCACCTGAGGCCAAGTGTTCAAAAACAGCCTGGACAACCTAGTAAGACCCCCATCTCTGGAAAAATAAAATAAATTAGCCAGGCAAGGTGGTGCACACCTGTAGTCCCTGCTACTCAGGAGGCTG... |
Task1_train_1061 | Consider this mutation in PIGK (phosphatidylinositol glycan anchor biosynthesis class K) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | GACCGGCCGACACTTAGGAAAAATAGAAAAGAACCTACGTTGAAATATCAGGGGCTGATTCCCCTGATATTCTAACACTAGACTAACAAAATTTAGGGGATATAAATATTTTACTTTTAAAATACAAACTGTGTTTGCTTTGCACAACTGATAAAATATTTCCAAATCATACATTTATTTATTTACCCAATACTAGCTGAGCAGAATCTTTTCTATTGATTTCTATTTATTAAATAACAAATGGCTTAAATCACCAACTGTTTAAATCCTTAATTACCCCACTACAAAGACTTCATAAACACAGTTATAGATAAGCAATT... | GACCGGCCGACACTTAGGAAAAATAGAAAAGAACCTACGTTGAAATATCAGGGGCTGATTCCCCTGATATTCTAACACTAGACTAACAAAATTTAGGGGATATAAATATTTTACTTTTAAAATACAAACTGTGTTTGCTTTGCACAACTGATAAAATATTTCCAAATCATACATTTATTTATTTACCCAATACTAGCTGAGCAGAATCTTTTCTATTGATTTCTATTTATTAAATAACAAATGGCTTAAATCACCAACTGTTTAAATCCTTAATTACCCCACTACAAAGACTTCATAAACACAGTTATAGATAAGCAATT... |
Task1_train_1062 | The gene LOC126805765, NEXN (BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887| nexilin F-actin binding protein) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypertrophic cardiomyopathy 20 | GAAATGTAGAGTTGACTGTAGAATTGCTGAAAGGACAGTCATTTGGTGGAAAGGTCATATTTAGGAGTTCATAATTAATAACATAATGGCAAGATGTAAAACAAGAAGAGATACAATTCACCAGCTGGTCTTGGGCTAGTATTTTCATTTGGGTTCTAGGAAATTCTACAAAGCATGAGTAGTAAATTTGTGAATGATAGTGAAGTGGATGTGATAGCTAGCATTCTGAGTAGAATTTTAAATATTTTGTTCTTGATAACTCTTAGAAATTATTATTTTAGTATTAAAACAAAGTTTGACCTATACTCATAGGAGAAAAC... | GAAATGTAGAGTTGACTGTAGAATTGCTGAAAGGACAGTCATTTGGTGGAAAGGTCATATTTAGGAGTTCATAATTAATAACATAATGGCAAGATGTAAAACAAGAAGAGATACAATTCACCAGCTGGTCTTGGGCTAGTATTTTCATTTGGGTTCTAGGAAATTCTACAAAGCATGAGTAGTAAATTTGTGAATGATAGTGAAGTGGATGTGATAGCTAGCATTCTGAGTAGAATTTTAAATATTTTGTTCTTGATAACTCTTAGAAATTATTATTTTAGTATTAAAACAAAGTTTGACCTATACTCATAGGAGAAAAC... |
Task1_train_1063 | A mutation in NEXN (nexilin F-actin binding protein), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiovascular phenotype | TGAAAGGCAAGTTATTAACTGGGAGGGACTCAGAATAGCAATTATTGTACCTGCTGAAATATTCCATCTTAAAGGTTCATTTGGTAAACAACAAAAAAAGTGTATACTGTGAACAAAGAGGTCCTTTTTAAATTTAAGTCTCAGAAGTCTGTTGAGATGAAACTACAGTAAGCAAATCATGGTTTAACATGTATTTTTCTTAGTCTTTTATGTATAATAATTTTTTAAAAAATGCTGTTCATTCATTCATTAGCAACAACCATAGTCAGGCATTATATTTATCAACTGAAGGTAAATAATGGCACAAAATAGAATTTACG... | TGAAAGGCAAGTTATTAACTGGGAGGGACTCAGAATAGCAATTATTGTACCTGCTGAAATATTCCATCTTAAAGGTTCATTTGGTAAACAACAAAAAAAGTGTATACTGTGAACAAAGAGGTCCTTTTTAAATTTAAGTCTCAGAAGTCTGTTGAGATGAAACTACAGTAAGCAAATCATGGTTTAACATGTATTTTTCTTAGTCTTTTATGTATAATAATTTTTTAAAAAATGCTGTTCATTCATTCATTAGCAACAACCATAGTCAGGCATTATATTTATCAACTGAAGGTAAATAATGGCACAAAATAGAATTTACG... |
Task1_train_1064 | An alteration has been detected in DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital myopathy 21 with early respiratory failure | AATTTTGTAATAGGTGATTTTTATTCTGTTTTTACTCTATGTGATACTGATCCTTGCACTGGATTTCAGTTTGGCAATATGCTTTTTAAAACTGGGAGTCTTAAGGTGACTGGATATTAGCATTTTTCACTAAGTTTTTTGGATTTGAAAGTACCTTTTGATATTATTTCTTGGTGAGGCTAAAAAAATTGATAAATAGCTGACAAACCTCTGTAACCTACAGGTAGGCTAGATCAATGTTATACATTTCTAATGTCATGGTGTTGTTAAAGTAGAGAATTTTGAAGAGTAGAAAATCGTAGCTGTCAAAATGCACAAAG... | AATTTTGTAATAGGTGATTTTTATTCTGTTTTTACTCTATGTGATACTGATCCTTGCACTGGATTTCAGTTTGGCAATATGCTTTTTAAAACTGGGAGTCTTAAGGTGACTGGATATTAGCATTTTTCACTAAGTTTTTTGGATTTGAAAGTACCTTTTGATATTATTTCTTGGTGAGGCTAAAAAAATTGATAAATAGCTGACAAACCTCTGTAACCTACAGGTAGGCTAGATCAATGTTATACATTTCTAATGTCATGGTGTTGTTAAAGTAGAGAATTTTGAAGAGTAGAAAATCGTAGCTGTCAAAATGCACAAAG... |
Task1_train_1065 | A variant found in Chromosome 1 affects DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital myopathy 21 with early respiratory failure | GACTGGATATTAGCATTTTTCACTAAGTTTTTTGGATTTGAAAGTACCTTTTGATATTATTTCTTGGTGAGGCTAAAAAAATTGATAAATAGCTGACAAACCTCTGTAACCTACAGGTAGGCTAGATCAATGTTATACATTTCTAATGTCATGGTGTTGTTAAAGTAGAGAATTTTGAAGAGTAGAAAATCGTAGCTGTCAAAATGCACAAAGATGAACATTCAGAAAGAATTGCTGAATCATCATTGCTTGGCATATAGAGTAGGCGTTCTCATTTCTTTAAAGGTTAACACATGATTATTACCCTTTATTATATTCTA... | GACTGGATATTAGCATTTTTCACTAAGTTTTTTGGATTTGAAAGTACCTTTTGATATTATTTCTTGGTGAGGCTAAAAAAATTGATAAATAGCTGACAAACCTCTGTAACCTACAGGTAGGCTAGATCAATGTTATACATTTCTAATGTCATGGTGTTGTTAAAGTAGAGAATTTTGAAGAGTAGAAAATCGTAGCTGTCAAAATGCACAAAGATGAACATTCAGAAAGAATTGCTGAATCATCATTGCTTGGCATATAGAGTAGGCGTTCTCATTTCTTTAAAGGTTAACACATGATTATTACCCTTTATTATATTCTA... |
Task1_train_1066 | With a mutation on Chromosome 1 in gene DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myopathy 21 with early respiratory failure | AAAGATTAGAAGAAAATAATTTATAATTCACTACAAATTTGTATACATTTATATTAATAAAAAATACATTTATAAGTGCATATAAATATATACATTTATAAATTATAATGCTACTATGTTAATACAATTATTATTTGAGTTCTTATTTGCACTATTTCTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCACAGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGTGATTCTCTTGCCTCGGCCTCCTAAGTAGCTGGGATTACAGGCGCCCCCCACCACACCTGGCTAATTTTTGTATTTTTAG... | AAAGATTAGAAGAAAATAATTTATAATTCACTACAAATTTGTATACATTTATATTAATAAAAAATACATTTATAAGTGCATATAAATATATACATTTATAAATTATAATGCTACTATGTTAATACAATTATTATTTGAGTTCTTATTTGCACTATTTCTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCACAGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGTGATTCTCTTGCCTCGGCCTCCTAAGTAGCTGGGATTACAGGCGCCCCCCACCACACCTGGCTAATTTTTGTATTTTTAG... |
Task1_train_1067 | The following genetic variant occurs in PRKACB (protein kinase cAMP-activated catalytic subunit beta) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardioacrofacial dysplasia 2 | ATATATGTATGATGGAGTACTATGCAGCCATAAAAAAGAATGAATTAACACATTTGCAGTGACCTAGATGAGATTGGAGACTATTATTCAAAGTGAAGTGAAAGTAACTCAGGAATGGAAAACCAAACATCATATGTTCTCACTGATATGTGGGAGCTAAGCTATGAGGACACAAAGGCATAAGAATGATATAATGGACTTTTGGCACTTGGTGGGGGAGAATGGGAGGGAGGCAAGGGATAAAAGACTACAAATATGGTGCAGTGTATACTGCTCAAGTAATGGATGCACCAAAATTTCACAAATCATCATTAAAGAGC... | ATATATGTATGATGGAGTACTATGCAGCCATAAAAAAGAATGAATTAACACATTTGCAGTGACCTAGATGAGATTGGAGACTATTATTCAAAGTGAAGTGAAAGTAACTCAGGAATGGAAAACCAAACATCATATGTTCTCACTGATATGTGGGAGCTAAGCTATGAGGACACAAAGGCATAAGAATGATATAATGGACTTTTGGCACTTGGTGGGGGAGAATGGGAGGGAGGCAAGGGATAAAAGACTACAAATATGGTGCAGTGTATACTGCTCAAGTAATGGATGCACCAAAATTTCACAAATCATCATTAAAGAGC... |
Task1_train_1068 | This sequence variant lies in PRKACB (protein kinase cAMP-activated catalytic subunit beta) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardioacrofacial dysplasia 2 | AAATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGA... | AAATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGA... |
Task1_train_1069 | A mutation on Chromosome 1 affecting PRKACB (protein kinase cAMP-activated catalytic subunit beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardioacrofacial dysplasia 2 | AATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGAG... | AATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGAG... |
Task1_train_1070 | Here is a mutation in PRKACB (protein kinase cAMP-activated catalytic subunit beta) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardioacrofacial dysplasia 2 | AATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGAG... | AATACTTTCTTATTCAAAGGGAAAAATAGAACCAATAAACTGGAATCTCAATAGCTTTTTTGTATTGCATTTAAATGGATAGTTATAAATGGGATTATCCATTATGATTATGTATTATTAAAGCATTTATAATTCCCATAGTGTTTTTACGAGAATTTTAAATTTTATTTATGTATTTACATATAGAATAATGCCGGACTTGAAGATTTTGAAAGGAAAAAAACCCTTGGAACAGGTTCATTTGGAAGAGTCATGTTGGTAAAACACAAAGCCACTGAACAGTATTATGCCATGAAGATCTTAGATAAGCAGAAGGTGAG... |
Task1_train_1071 | An alteration has been detected in PRKACB (protein kinase cAMP-activated catalytic subunit beta) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardioacrofacial dysplasia 2 | TGCATGTGGCTAGCCAGTTATCCCAGCACCATTTATTGAGTAGGGAAACTTTTCCCCATTGCTTGGTTTTGTCAGCTTTGTCAAAGATCGGGTGGTCGTAGGTGTATGGACTTATTTCTGGGTTGTCATAGTTGAAATCATAGTAAATATATATAGTCTTGTCTCTGACTTTTTTCACTTTTATAATAACAAGCATGCAAACATCATTCTAATGGCTTGTTTGTAAATGTACCATAAAATATGTAGCCACTCTTCTATCGTTGAGTGTTCAGGTTTTATTTTTGATTTTTTTATTATTATAAATAACTATGATAAACATC... | TGCATGTGGCTAGCCAGTTATCCCAGCACCATTTATTGAGTAGGGAAACTTTTCCCCATTGCTTGGTTTTGTCAGCTTTGTCAAAGATCGGGTGGTCGTAGGTGTATGGACTTATTTCTGGGTTGTCATAGTTGAAATCATAGTAAATATATATAGTCTTGTCTCTGACTTTTTTCACTTTTATAATAACAAGCATGCAAACATCATTCTAATGGCTTGTTTGTAAATGTACCATAAAATATGTAGCCACTCTTCTATCGTTGAGTGTTCAGGTTTTATTTTTGATTTTTTTATTATTATAAATAACTATGATAAACATC... |
Task1_train_1072 | Here is a mutation in BCL10 (BCL10 immune signaling adaptor) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Malignant tumor of testis | TTTATTGTCTATGTAGTTAGAAAACAGTCTGAAAGAAAACTCAGTGTTAAAACTTATCTATATATAGGTGTTATTGTATATCTAAATTATAATCTTTGATTCAATTTTTAAAAAGGTGTCCACAAATTTAATTTTAAAGTCTGCTTCTGCTTTTTAAAGCACCTTCCTTAAATGTAACCTATTTTCTTTCTAACACCACTATTTTTGCTATGCATTGGAGGTGAAACATTTCTCTATAATCCTTAGAAAGTGCTTATACTAAAAAAAATCCAATCTTTAAAAATTTTTAAAGCTAATATGCCAATCTTCTTCATGTCGGA... | TTTATTGTCTATGTAGTTAGAAAACAGTCTGAAAGAAAACTCAGTGTTAAAACTTATCTATATATAGGTGTTATTGTATATCTAAATTATAATCTTTGATTCAATTTTTAAAAAGGTGTCCACAAATTTAATTTTAAAGTCTGCTTCTGCTTTTTAAAGCACCTTCCTTAAATGTAACCTATTTTCTTTCTAACACCACTATTTTTGCTATGCATTGGAGGTGAAACATTTCTCTATAATCCTTAGAAAGTGCTTATACTAAAAAAAATCCAATCTTTAAAAATTTTTAAAGCTAATATGCCAATCTTCTTCATGTCGGA... |
Task1_train_1073 | Here is a variant affecting BCL10 (BCL10 immune signaling adaptor) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; MALE GERM CELL TUMOR, SOMATIC | GGTGACAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAGGCACAGGACAGTTAAGTCATGTCCAACATTCCAGGACTACTTTGTGGGAAAGTGAGAACTACAATTCAATAGATAATGTCCTGTTTCTCAACCTCACAGTTTACTCAAATGACAGTGGTTGTTCCCATTAGCTGTGGTACGAATGTATCCGCCAAAAGTTCACATGTTGGAAACTTGGTTGCCACTGCAGCAGTGTTAGGAGCTGAGGCCTTTGGGAGGCAACAGGGTCATGAGGGCTCTGCCCTGGACTAATGCCATTATCAC... | GGTGACAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAGGCACAGGACAGTTAAGTCATGTCCAACATTCCAGGACTACTTTGTGGGAAAGTGAGAACTACAATTCAATAGATAATGTCCTGTTTCTCAACCTCACAGTTTACTCAAATGACAGTGGTTGTTCCCATTAGCTGTGGTACGAATGTATCCGCCAAAAGTTCACATGTTGGAAACTTGGTTGCCACTGCAGCAGTGTTAGGAGCTGAGGCCTTTGGGAGGCAACAGGGTCATGAGGGCTCTGCCCTGGACTAATGCCATTATCAC... |
Task1_train_1074 | A variant on Chromosome 1 in gene HS2ST1 (heparan sulfate 2-O-sulfotransferase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurofacioskeletal syndrome with or without renal agenesis | TGTGTCAAATGAAAGCACATAGAACTGTATGCTAGAGTCATCAGGAAGAGAGGTCACAAGATTTTGTTGTAGCCCCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCA... | TGTGTCAAATGAAAGCACATAGAACTGTATGCTAGAGTCATCAGGAAGAGAGGTCACAAGATTTTGTTGTAGCCCCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCA... |
Task1_train_1075 | A variant was discovered in gene HS2ST1 (heparan sulfate 2-O-sulfotransferase 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS | GAGTCATCAGGAAGAGAGGTCACAAGATTTTGTTGTAGCCCCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCACTTAGCTGCCTCAAGGACCTCTTAGTTGGAAATC... | GAGTCATCAGGAAGAGAGGTCACAAGATTTTGTTGTAGCCCCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCACTTAGCTGCCTCAAGGACCTCTTAGTTGGAAATC... |
Task1_train_1076 | The gene HS2ST1 (heparan sulfate 2-O-sulfotransferase 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofacioskeletal syndrome with or without renal agenesis | CCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCACTTAGCTGCCTCAAGGACCTCTTAGTTGGAAATCCCATCTTTCCAGAACACTTTCTCACAGATGTTTGCATGGT... | CCTCTGTTTATTCCAAAACAGCAGCCAATGACCTTTTAATATGAGTTGTGTCATGGTAATTCTCTTTTTAAATCTTTCAGTGGCCTCCCTCCTGACTCTGTATAAAGTAATGCTTGTAACAGTATAGAAGACCCACACAGTCTGCACTCACTCCACCTCACCCCCACCTCTCTTATCTTCCATGGTATTCCCTTTTTGATTCTACAGGCAGCTTGATCTCCTTGCTGTTCCTCAAAACACCTGGCACTTAGCTGCCTCAAGGACCTCTTAGTTGGAAATCCCATCTTTCCAGAACACTTTCTCACAGATGTTTGCATGGT... |
Task1_train_1077 | Gene ZNF644 (zinc finger protein 644), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Myopia 21, autosomal dominant | TCAGTGCTAATGAGCATCAATTGATGAGTTATACAGAAATGACAGTAGAATAACCAATCTGTGCTCTGTAAAAAAAAAAAGCAGCTTAAACAGGAAGATTGTGAGAAAGTATTTTCCACATAGATTCCATTAAAGAAGGCATAATTGAACTGCATTTAAACTGTGTATAGCATAGTCATAAACGTCCTCTTACCTGAGTGCATAGTCAAGTCCATTTTTTGTGGCTGATACATCAACGGACTATCCTCATTTAATGGAAGAACGCATTTCTGAACGAATCTCTTTCTTGCTGTCTGATTATGGATCTTTTGAGGAGAAAT... | TCAGTGCTAATGAGCATCAATTGATGAGTTATACAGAAATGACAGTAGAATAACCAATCTGTGCTCTGTAAAAAAAAAAAGCAGCTTAAACAGGAAGATTGTGAGAAAGTATTTTCCACATAGATTCCATTAAAGAAGGCATAATTGAACTGCATTTAAACTGTGTATAGCATAGTCATAAACGTCCTCTTACCTGAGTGCATAGTCAAGTCCATTTTTTGTGGCTGATACATCAACGGACTATCCTCATTTAATGGAAGAACGCATTTCTGAACGAATCTCTTTCTTGCTGTCTGATTATGGATCTTTTGAGGAGAAAT... |
Task1_train_1078 | This alteration occurs within gene ZNF644 (zinc finger protein 644) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Myopia 21, autosomal dominant | GGAAGAACGCATTTCTGAACGAATCTCTTTCTTGCTGTCTGATTATGGATCTTTTGAGGAGAAATAGCAGAATTCCTTTCTTCTCCCATCCTTTTATTTTTAAGAAGTTCTATGAGTGTAAGAGACTGATTCTTTTTCCCACTGGGCAGTTCTGGTTTTGTTTCATCATATTCATTTAAGAAATTCAGCCCTTCTTCTTCTGATGCAGACACTGACAGAGCTTCAGTCTTTAGGCCATTACGGTATGCTTCAAGAGGTATAACATTTTGAGATATAAAGTCATCACTTGATGCAAGTTTTTGAGCTACAAATGGTCTGGG... | GGAAGAACGCATTTCTGAACGAATCTCTTTCTTGCTGTCTGATTATGGATCTTTTGAGGAGAAATAGCAGAATTCCTTTCTTCTCCCATCCTTTTATTTTTAAGAAGTTCTATGAGTGTAAGAGACTGATTCTTTTTCCCACTGGGCAGTTCTGGTTTTGTTTCATCATATTCATTTAAGAAATTCAGCCCTTCTTCTTCTGATGCAGACACTGACAGAGCTTCAGTCTTTAGGCCATTACGGTATGCTTCAAGAGGTATAACATTTTGAGATATAAAGTCATCACTTGATGCAAGTTTTTGAGCTACAAATGGTCTGGG... |
Task1_train_1079 | Consider this mutation in HFM1 (helicase for meiosis 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Premature ovarian failure 9 | CATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGTACTCTAGCCTGGGCAACAAAGCAAAACTCCATCTCAAAAACAAACAAACAAACAACAAAAAAAATCAAGTTCATTTTCTTCTTTGGATCTTTCCTATTTCCTTATACTTTCAGAAGGCAGAATTTACAATTCTTATATGCTTATGAATGAATTTATCCAAATCCCCAAATAGAAGACACGGAACAGTATAAAATTCCAAAATATTACTACTTTGT... | CATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGCGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGTACTCTAGCCTGGGCAACAAAGCAAAACTCCATCTCAAAAACAAACAAACAAACAACAAAAAAAATCAAGTTCATTTTCTTCTTTGGATCTTTCCTATTTCCTTATACTTTCAGAAGGCAGAATTTACAATTCTTATATGCTTATGAATGAATTTATCCAAATCCCCAAATAGAAGACACGGAACAGTATAAAATTCCAAAATATTACTACTTTGT... |
Task1_train_1080 | A variant affecting Chromosome 1, within the gene HFM1 (helicase for meiosis 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Premature ovarian failure 9 | TCAGAGGATTGCTTGAGCCCACAAGTTCTAGACCAGCCTAGGCAGCATAGGGAAGCTCTGCCTCTACAATTTTTTTTTTCAAAAGTTAGCCAGGTGTGCTGGCATGTGCCTGTAGTACCAGCTACTCTGGTGGCTGAGGTGAGAAGATCACTTGAGCCCAGAAGGTTGAAGCTGCAGTAAGCTGTGATCACACCATTGGACTTCAGCCTGGGCAACAGAGTGACAGCCTGTCTCAAAAAAGCTTCCAAGACATACTAAGAAAAAAAGGAATGTGCAGAAGACTAAAATAATGGAGGTTTAAAAAAATATGCCACAAGGCC... | TCAGAGGATTGCTTGAGCCCACAAGTTCTAGACCAGCCTAGGCAGCATAGGGAAGCTCTGCCTCTACAATTTTTTTTTTCAAAAGTTAGCCAGGTGTGCTGGCATGTGCCTGTAGTACCAGCTACTCTGGTGGCTGAGGTGAGAAGATCACTTGAGCCCAGAAGGTTGAAGCTGCAGTAAGCTGTGATCACACCATTGGACTTCAGCCTGGGCAACAGAGTGACAGCCTGTCTCAAAAAAGCTTCCAAGACATACTAAGAAAAAAAGGAATGTGCAGAAGACTAAAATAATGGAGGTTTAAAAAAATATGCCACAAGGCC... |
Task1_train_1081 | This alteration in HFM1 (helicase for meiosis 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Premature ovarian failure 9 | ATAATTTCATATATAAATTATAACATAATCATAATTACTAAGGCTTTATTACAAATTAGGGTTTGTTATAAACAAGAATACATGCTTGCCAAGAAATACCACTGAATAAAACTAGTACCTTTTAAAAAAATTATTAAATTCCCTAAAATGACACAAACTTTCTAGTTAAATAGTTGAAAACTTTACAGAAAATTGCCTTAAAAAAATCTCCAAACCAAATTTCCCTTTGATATTTTAAAAGGAAATAAAATAAGCTATATTAGCATTAGTATCTTTTTGGAACTTTTTTTTATACTACCTGCTTTCTACAGTGTCTCTAC... | ATAATTTCATATATAAATTATAACATAATCATAATTACTAAGGCTTTATTACAAATTAGGGTTTGTTATAAACAAGAATACATGCTTGCCAAGAAATACCACTGAATAAAACTAGTACCTTTTAAAAAAATTATTAAATTCCCTAAAATGACACAAACTTTCTAGTTAAATAGTTGAAAACTTTACAGAAAATTGCCTTAAAAAAATCTCCAAACCAAATTTCCCTTTGATATTTTAAAAGGAAATAAAATAAGCTATATTAGCATTAGTATCTTTTTGGAACTTTTTTTTATACTACCTGCTTTCTACAGTGTCTCTAC... |
Task1_train_1082 | Here’s a variant in HFM1 (helicase for meiosis 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spermatogenic failure 4 | GTGAGTGAGTTTTTGTGACATCTAGTTGCTTAAAAGTGTATGGTACCCCCCGACCCCTACTCCTGCTCTCACCATGTGATACACCAACTCATCCTTTGCCTTCTGCCATGACTGTAAGCAGCCCAAGGCCTCACCAGAAGCCGAGCAGATGTGGTGCCATGTTTCTTGTACAGCCTGCAAAACTGTGAGCCAATTAAACCTCCCTTCTTTATAAATTACCCAGGCTCAGAAATTTCTTTATATCAATGCAAGAATGACCTAATACACCTGCTAAGATTGAGTGGTAAGCAGGATGAACATGAGTCCCCCTTTCCTCAAGA... | GTGAGTGAGTTTTTGTGACATCTAGTTGCTTAAAAGTGTATGGTACCCCCCGACCCCTACTCCTGCTCTCACCATGTGATACACCAACTCATCCTTTGCCTTCTGCCATGACTGTAAGCAGCCCAAGGCCTCACCAGAAGCCGAGCAGATGTGGTGCCATGTTTCTTGTACAGCCTGCAAAACTGTGAGCCAATTAAACCTCCCTTCTTTATAAATTACCCAGGCTCAGAAATTTCTTTATATCAATGCAAGAATGACCTAATACACCTGCTAAGATTGAGTGGTAAGCAGGATGAACATGAGTCCCCCTTTCCTCAAGA... |
Task1_train_1083 | Mutation context: Chromosome 1, Gene HFM1 (helicase for meiosis 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spermatogenic failure 4 | ATTTTGTCATAGAGGCCAAATTTCTCACTATTATTTTAACTTCTTTGCTATTTTTGAAAACTACGCCTCAAAATGGCTGACATCTCTTTTGTGTTGTCCTAAATATTAGATAAATAGCAGCAAATTAATAGTTGGTTTAGGTTGGCAAGGGTTGACAAGTTTTTAAGCAAACAACAAACACTTGAGAGATGCCAGTGCCAAAAGCAAACTTCAGACTCAAGCTAGATTCTGGAACTGTGGTAAGCAATCCTTATCTTTACATAGCCCAGTTAATAATCAGGCTCCATGCTCTGCTATGAAATTGACTGTTGTTTTGACAG... | ATTTTGTCATAGAGGCCAAATTTCTCACTATTATTTTAACTTCTTTGCTATTTTTGAAAACTACGCCTCAAAATGGCTGACATCTCTTTTGTGTTGTCCTAAATATTAGATAAATAGCAGCAAATTAATAGTTGGTTTAGGTTGGCAAGGGTTGACAAGTTTTTAAGCAAACAACAAACACTTGAGAGATGCCAGTGCCAAAAGCAAACTTCAGACTCAAGCTAGATTCTGGAACTGTGGTAAGCAATCCTTATCTTTACATAGCCCAGTTAATAATCAGGCTCCATGCTCTGCTATGAAATTGACTGTTGTTTTGACAG... |
Task1_train_1084 | Chromosome 1 houses a mutation in gene BRDT (bromodomain testis associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spermatogenic failure 21 | TGGCGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCATTTGAATCGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTAGAAAAAAAAAAAAAAAATCATGGTATCTAAGGTTAATTGGTACAGAGAATACCAGTTCTCTATCGATAATTGTTCCACATGCACAGATTTTAGTCAAGATGTAAGAGAATCTAAAATAAGCCAATACACACAACCTTTAAATAAAAACAGGTTTCATTACATATTCTACAAATTTTGCAGTATGTCT... | TGGCGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCATTTGAATCGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTAGAAAAAAAAAAAAAAAATCATGGTATCTAAGGTTAATTGGTACAGAGAATACCAGTTCTCTATCGATAATTGTTCCACATGCACAGATTTTAGTCAAGATGTAAGAGAATCTAAAATAAGCCAATACACACAACCTTTAAATAAAAACAGGTTTCATTACATATTCTACAAATTTTGCAGTATGTCT... |
Task1_train_1085 | Given this variant in gene GFI1, LOC129930930 (growth factor independent 1 transcriptional repressor| ATAC-STARR-seq lymphoblastoid active region 1314) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AAGGATTGACTTATGCAAAAAACTCCCACAGGTGGGACAGAACCAGAAATAACCCAGATCCTCATGGGCCTTTAGATTTGTGACTTGCATTAGGGGAGGCAGCTAACCAATCTCACACTTTTTTTCCTTTCCAGTCTCCACAGAATCAAAGCGGTCAGGGTTGGACAGGAATGACAGAGCTGTCTCCGTATTACTTGATCAAGGAAACCAGTATCGGGGAAGTCAAAAGATTTACACAAGTCACATGATGTGTTGGTGACAGAGCTGTGACTAAAACTAAAACCTAGACCTAAGACCTGTGATTTCTTTATTCATCTGGG... | AAGGATTGACTTATGCAAAAAACTCCCACAGGTGGGACAGAACCAGAAATAACCCAGATCCTCATGGGCCTTTAGATTTGTGACTTGCATTAGGGGAGGCAGCTAACCAATCTCACACTTTTTTTCCTTTCCAGTCTCCACAGAATCAAAGCGGTCAGGGTTGGACAGGAATGACAGAGCTGTCTCCGTATTACTTGATCAAGGAAACCAGTATCGGGGAAGTCAAAAGATTTACACAAGTCACATGATGTGTTGGTGACAGAGCTGTGACTAAAACTAAAACCTAGACCTAAGACCTGTGATTTCTTTATTCATCTGGG... |
Task1_train_1086 | Assess the clinical impact of this variant on gene RPL5 (ribosomal protein L5), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Diamond-Blackfan anemia | TAATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAG... | TAATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAG... |
Task1_train_1087 | This alteration occurs within gene RPL5 (ribosomal protein L5) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TAATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAG... | TAATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAG... |
Task1_train_1088 | Chromosome 1 houses a mutation in gene RPL5 (ribosomal protein L5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Diamond-Blackfan anemia | AATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAGG... | AATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAGG... |
Task1_train_1089 | The following genetic variant occurs in RPL5 (ribosomal protein L5) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Diamond-Blackfan anemia | ATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAGGT... | ATGTTAATTTATTTTTTCTTTGCTTTCCTTTTTCTTTTTCCCTAGAGATAGAGGTCTTCTTATGTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCTGGCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCTATAATGTTAATTCATCCCACTATTGGTGGTTTTTTAACTTTTACCACTTGAATAAGATGCTGTTGGCTGAGGATGCTGGACAATTACCCCCTAGCTCCTGGTGTCACCAACTGCACTGGCTGAACCAGCCATGCTAGCCACAGACCCCTGACTGTGACCAAGGGGAATAGGT... |
Task1_train_1090 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAAGTTCTTTTCAAAAATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGA... | AAAGTTCTTTTCAAAAATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGA... |
Task1_train_1091 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | GATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGT... | GATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGT... |
Task1_train_1092 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinitis pigmentosa 19 | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1093 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1094 | This genomic variant is located on Chromosome 1, within the ABCA4 (ATP binding cassette subfamily A member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cone-rod dystrophy 3 | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1095 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Age related macular degeneration 2 | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1096 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1097 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... | GAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGC... |
Task1_train_1098 | Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cone-rod dystrophy 3 | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... |
Task1_train_1099 | Assess the clinical impact of this variant on gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Age related macular degeneration 2 | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... |
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