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_10700 | With a mutation on Chromosome 6 in gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Metaphyseal chondrodysplasia, Schmid type | TGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTAAAATGTAATTCA... | TGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTAAAATGTAATTCA... |
Task1_train_10701 | A variant was discovered in gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CTTCATTCAAGATTAGGGTGGCACAATCCTCAAGGTAAAACGACTACTTCCTTCTATTAAGTTTTTTAAATGCCACAAACTGAAATCGTGATTGGTTGTGTCAGAATGTGGCACGTGCATCTGCCCACCAGCTGTGGAATCCTCTGCAGCATAATTTAGTATGTTTTGACAGAACTCTTTTTTAACCTGTGTTGGATGGATATGCCTAGGAATTATGTAATAACTCTTTGAATTCCTGTTTCAACTTAATGTCTTACTTGTATAGACTGTGGGCTTTTGTGTTTGTTATGGTGCATTAATGTCTGCCAATGGATGATAGT... | CTTCATTCAAGATTAGGGTGGCACAATCCTCAAGGTAAAACGACTACTTCCTTCTATTAAGTTTTTTAAATGCCACAAACTGAAATCGTGATTGGTTGTGTCAGAATGTGGCACGTGCATCTGCCCACCAGCTGTGGAATCCTCTGCAGCATAATTTAGTATGTTTTGACAGAACTCTTTTTTAACCTGTGTTGGATGGATATGCCTAGGAATTATGTAATAACTCTTTGAATTCCTGTTTCAACTTAATGTCTTACTTGTATAGACTGTGGGCTTTTGTGTTTGTTATGGTGCATTAATGTCTGCCAATGGATGATAGT... |
Task1_train_10702 | A variant on Chromosome 6 in gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Metaphyseal chondrodysplasia, Schmid type | TTCATTCAAGATTAGGGTGGCACAATCCTCAAGGTAAAACGACTACTTCCTTCTATTAAGTTTTTTAAATGCCACAAACTGAAATCGTGATTGGTTGTGTCAGAATGTGGCACGTGCATCTGCCCACCAGCTGTGGAATCCTCTGCAGCATAATTTAGTATGTTTTGACAGAACTCTTTTTTAACCTGTGTTGGATGGATATGCCTAGGAATTATGTAATAACTCTTTGAATTCCTGTTTCAACTTAATGTCTTACTTGTATAGACTGTGGGCTTTTGTGTTTGTTATGGTGCATTAATGTCTGCCAATGGATGATAGTG... | TTCATTCAAGATTAGGGTGGCACAATCCTCAAGGTAAAACGACTACTTCCTTCTATTAAGTTTTTTAAATGCCACAAACTGAAATCGTGATTGGTTGTGTCAGAATGTGGCACGTGCATCTGCCCACCAGCTGTGGAATCCTCTGCAGCATAATTTAGTATGTTTTGACAGAACTCTTTTTTAACCTGTGTTGGATGGATATGCCTAGGAATTATGTAATAACTCTTTGAATTCCTGTTTCAACTTAATGTCTTACTTGTATAGACTGTGGGCTTTTGTGTTTGTTATGGTGCATTAATGTCTGCCAATGGATGATAGTG... |
Task1_train_10703 | Here is a genetic alteration in DSE (dermatan sulfate epimerase) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 2 | TGGTATCCTGGGAACAGTGATCTGATTTTAGGCATCAGTCACATTGGTATCTGGTGGGAGATGGAAGACACACAGGAAAAGGATGAAGATAATTAGAATTTTAAACCAGAATGGTAGAGAATGGAAATTGAAAACTATCCAGAATATTGACATATCAGGTATGATGCTGGGTGGCAGAAGAGGCCAGGGTATGATGATCAGTCACCTCTGCATACCCAAGCCTGACAGCTGCATTGCCCCCATTAGTCAGGAGCCAAGTCTTAGCCTGGGACCTATATTTAGGCCCAGAGCTGGTTAGATCTGGGCCTCTGGAAGCCCCA... | TGGTATCCTGGGAACAGTGATCTGATTTTAGGCATCAGTCACATTGGTATCTGGTGGGAGATGGAAGACACACAGGAAAAGGATGAAGATAATTAGAATTTTAAACCAGAATGGTAGAGAATGGAAATTGAAAACTATCCAGAATATTGACATATCAGGTATGATGCTGGGTGGCAGAAGAGGCCAGGGTATGATGATCAGTCACCTCTGCATACCCAAGCCTGACAGCTGCATTGCCCCCATTAGTCAGGAGCCAAGTCTTAGCCTGGGACCTATATTTAGGCCCAGAGCTGGTTAGATCTGGGCCTCTGGAAGCCCCA... |
Task1_train_10704 | Here’s a variant in DSE (dermatan sulfate epimerase) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 2 | ATCCTGGGAACAGTGATCTGATTTTAGGCATCAGTCACATTGGTATCTGGTGGGAGATGGAAGACACACAGGAAAAGGATGAAGATAATTAGAATTTTAAACCAGAATGGTAGAGAATGGAAATTGAAAACTATCCAGAATATTGACATATCAGGTATGATGCTGGGTGGCAGAAGAGGCCAGGGTATGATGATCAGTCACCTCTGCATACCCAAGCCTGACAGCTGCATTGCCCCCATTAGTCAGGAGCCAAGTCTTAGCCTGGGACCTATATTTAGGCCCAGAGCTGGTTAGATCTGGGCCTCTGGAAGCCCCACACC... | ATCCTGGGAACAGTGATCTGATTTTAGGCATCAGTCACATTGGTATCTGGTGGGAGATGGAAGACACACAGGAAAAGGATGAAGATAATTAGAATTTTAAACCAGAATGGTAGAGAATGGAAATTGAAAACTATCCAGAATATTGACATATCAGGTATGATGCTGGGTGGCAGAAGAGGCCAGGGTATGATGATCAGTCACCTCTGCATACCCAAGCCTGACAGCTGCATTGCCCCCATTAGTCAGGAGCCAAGTCTTAGCCTGGGACCTATATTTAGGCCCAGAGCTGGTTAGATCTGGGCCTCTGGAAGCCCCACACC... |
Task1_train_10705 | Consider a variant on Chromosome 6 in gene RSPH4A (radial spoke head component 4A). Determine its clinical classification and disease relevance. | Pathogenic; Primary ciliary dyskinesia | GAAGCAAGGATGACCGAACTTTCTGGTGTGAGAAACTGAGATGTCACTGGCGAAGAAAGAGTACATAGAAAAAAGAGAAAACTTTGAGATGTGAATTAAATATTAAACTGAGGTATCTTTAGAATACTCAAGTGAAATTTCTCAGAAGTGGCTAGAAATATGTGTAGAATATGGGAGAAAAGTCAGAGTTAGAGAAACTTTAAACAGCCACTTATCACTTGAAGTGGTGTGGAGAACTCTTCCAAGCATAAAGAGTTGAGAGATGCGATAAGTGAAAAGGATATTTTGACAACATCAACATTTGGAGCTCAAGAAATAAG... | GAAGCAAGGATGACCGAACTTTCTGGTGTGAGAAACTGAGATGTCACTGGCGAAGAAAGAGTACATAGAAAAAAGAGAAAACTTTGAGATGTGAATTAAATATTAAACTGAGGTATCTTTAGAATACTCAAGTGAAATTTCTCAGAAGTGGCTAGAAATATGTGTAGAATATGGGAGAAAAGTCAGAGTTAGAGAAACTTTAAACAGCCACTTATCACTTGAAGTGGTGTGGAGAACTCTTCCAAGCATAAAGAGTTGAGAGATGCGATAAGTGAAAAGGATATTTTGACAACATCAACATTTGGAGCTCAAGAAATAAG... |
Task1_train_10706 | The gene RSPH4A (radial spoke head component 4A) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primary ciliary dyskinesia | CAAGAAATAAGGGAGCAATTAAAGAGACTTAAGATGAAATAGTTCTAGAGGGCCAAGTGGGATCAAGAGTGAGTGGTACAGCAAATGTCAAGGAAAGACTTTTGCAATCCTACATCAAGGCGATGAGGATTTTCAAAAGTCGTTATACTTATTTTGACACTACAATTATAAGAGCATATCATTTGTAAGAACAGCAGAGCTCTCAAGTTTTTCATCTTGAGGGTCAAGGTTTCTCTTGCAAGTTATCTTGACCTGTAGTTGAAGTTCTTTCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTT... | CAAGAAATAAGGGAGCAATTAAAGAGACTTAAGATGAAATAGTTCTAGAGGGCCAAGTGGGATCAAGAGTGAGTGGTACAGCAAATGTCAAGGAAAGACTTTTGCAATCCTACATCAAGGCGATGAGGATTTTCAAAAGTCGTTATACTTATTTTGACACTACAATTATAAGAGCATATCATTTGTAAGAACAGCAGAGCTCTCAAGTTTTTCATCTTGAGGGTCAAGGTTTCTCTTGCAAGTTATCTTGACCTGTAGTTGAAGTTCTTTCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTT... |
Task1_train_10707 | A variant was discovered in gene RFX6 (regulatory factor X6), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; RFX6-related disorder | GTTTTGTACTTTTAACATTAATCCTTATAATTTGATTTTTAAAAAATATCCAGAATAAACGAAGTCTACTTATGTCTACTCATTACCTCATTTATAGAGTCCATATTCAAAATGGGTAATAAGTCAATGAGAAAGTTGAAGGAAAAGGAAATAAAATATTTGACCTAATTTTTGTTCCTTTTTCTTAGGCTTGAAGAGAATTACATTGTATGTGAAGGAGTTTGCTTACCACGGTGCATTCTTTATGCACACTACTTAGATTTCTGTAGGAAAGAGAAATTAGAGCCAGCCTGTGCGGCCACCTTTGGAAAGGTAAATGA... | GTTTTGTACTTTTAACATTAATCCTTATAATTTGATTTTTAAAAAATATCCAGAATAAACGAAGTCTACTTATGTCTACTCATTACCTCATTTATAGAGTCCATATTCAAAATGGGTAATAAGTCAATGAGAAAGTTGAAGGAAAAGGAAATAAAATATTTGACCTAATTTTTGTTCCTTTTTCTTAGGCTTGAAGAGAATTACATTGTATGTGAAGGAGTTTGCTTACCACGGTGCATTCTTTATGCACACTACTTAGATTTCTGTAGGAAAGAGAAATTAGAGCCAGCCTGTGCGGCCACCTTTGGAAAGGTAAATGA... |
Task1_train_10708 | A mutation on Chromosome 6 affecting ROS1 (ROS proto-oncogene 1, receptor tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lung adenocarcinoma | CACCCACCCCAAAACCTCTTTTTCTCCTGCATTTTATATTTTTATGGATTTCCAACACCACCCAAGGAGCTAATCCTGACAAATATGGTCCTCCTTGACTTCTTCTCATTACTACCCATAGTAAACTAGTCCCTTTTTTTTTTGGAGATGGAGTCTGGCGGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGTTCACTGAAACCTTCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGAGACTACAGGTGCGCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTT... | CACCCACCCCAAAACCTCTTTTTCTCCTGCATTTTATATTTTTATGGATTTCCAACACCACCCAAGGAGCTAATCCTGACAAATATGGTCCTCCTTGACTTCTTCTCATTACTACCCATAGTAAACTAGTCCCTTTTTTTTTTGGAGATGGAGTCTGGCGGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGTTCACTGAAACCTTCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGAGACTACAGGTGCGCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTT... |
Task1_train_10709 | Assess the clinical impact of this variant on gene NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TCTTTTGTTAAATTTACTCCTAGGTATTCTTTTTGATGCTGTTGTTAATGGAATTATGTTCTTAATTTTCAGGTTGTTTGTTAATACTTAGAAATACACTTGTTTCTTAATATTGATTTTATATCCTGCAACCTTCCTAAGATACAAGTTCACCTAATCTAGTAGCTCTTTTTGTAGAGACTTAGGATTTTCTAAATACACGATCATGTTGTCTATAAATAAAGATTACTCCTGCTGTCTCTGCTCAGGTTTTTTTTTATTTAATTTTTTAGTCTGGCTTATGTCTACATAGCTTAGTGGTAAGCCAATGATTTCCACAT... | TCTTTTGTTAAATTTACTCCTAGGTATTCTTTTTGATGCTGTTGTTAATGGAATTATGTTCTTAATTTTCAGGTTGTTTGTTAATACTTAGAAATACACTTGTTTCTTAATATTGATTTTATATCCTGCAACCTTCCTAAGATACAAGTTCACCTAATCTAGTAGCTCTTTTTGTAGAGACTTAGGATTTTCTAAATACACGATCATGTTGTCTATAAATAAAGATTACTCCTGCTGTCTCTGCTCAGGTTTTTTTTTATTTAATTTTTTAGTCTGGCTTATGTCTACATAGCTTAGTGGTAAGCCAATGATTTCCACAT... |
Task1_train_10710 | Given a variant located on Chromosome 6 and affecting CEP85L, PLN (centrosomal protein 85 like| phospholamban), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiomyopathy | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... |
Task1_train_10711 | Here is a genetic alteration in CEP85L, PLN (centrosomal protein 85 like| phospholamban) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dilated cardiomyopathy 1P | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... |
Task1_train_10712 | This variant affects gene CEP85L, PLN (centrosomal protein 85 like| phospholamban) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Primary dilated cardiomyopathy | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... | TTCTGTAATGACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTT... |
Task1_train_10713 | A genetic alteration is present in CEP85L, LOC129997071 (centrosomal protein 85 like| ATAC-STARR-seq lymphoblastoid silent region 17501) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Lissencephaly | CATGTAACTGAAAAAAAACTTTACAAAGGCATGTCCTGACTTGTCAATAGTTTATTACTGACAAATTGAGATAAAATACATACTTTGGTACAGCTATACTGTCCAAATTTCTTCAATTAGGGTAGTAATTACAAAGTATCCTCTTCCACTATTATTCTATGCCATAGCAAATGTCTCTCTAGAGGCTGCAACATAACAAAGTCCTTCGTTACCTAACTTTAAATACTAAAATGTTCTCTTCTTCCTAGAAAACAATGAAAAATAGACACCATGCCTCAGTGATATACCTCCAAACAAGCTGCTATTATCACGAATAAATT... | CATGTAACTGAAAAAAAACTTTACAAAGGCATGTCCTGACTTGTCAATAGTTTATTACTGACAAATTGAGATAAAATACATACTTTGGTACAGCTATACTGTCCAAATTTCTTCAATTAGGGTAGTAATTACAAAGTATCCTCTTCCACTATTATTCTATGCCATAGCAAATGTCTCTCTAGAGGCTGCAACATAACAAAGTCCTTCGTTACCTAACTTTAAATACTAAAATGTTCTCTTCTTCCTAGAAAACAATGAAAAATAGACACCATGCCTCAGTGATATACCTCCAAACAAGCTGCTATTATCACGAATAAATT... |
Task1_train_10714 | A mutation on Chromosome 6 affecting CEP85L, LOC129997071 (centrosomal protein 85 like| ATAC-STARR-seq lymphoblastoid silent region 17501) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lissencephaly 10 | ATGTAACTGAAAAAAAACTTTACAAAGGCATGTCCTGACTTGTCAATAGTTTATTACTGACAAATTGAGATAAAATACATACTTTGGTACAGCTATACTGTCCAAATTTCTTCAATTAGGGTAGTAATTACAAAGTATCCTCTTCCACTATTATTCTATGCCATAGCAAATGTCTCTCTAGAGGCTGCAACATAACAAAGTCCTTCGTTACCTAACTTTAAATACTAAAATGTTCTCTTCTTCCTAGAAAACAATGAAAAATAGACACCATGCCTCAGTGATATACCTCCAAACAAGCTGCTATTATCACGAATAAATTT... | ATGTAACTGAAAAAAAACTTTACAAAGGCATGTCCTGACTTGTCAATAGTTTATTACTGACAAATTGAGATAAAATACATACTTTGGTACAGCTATACTGTCCAAATTTCTTCAATTAGGGTAGTAATTACAAAGTATCCTCTTCCACTATTATTCTATGCCATAGCAAATGTCTCTCTAGAGGCTGCAACATAACAAAGTCCTTCGTTACCTAACTTTAAATACTAAAATGTTCTCTTCTTCCTAGAAAACAATGAAAAATAGACACCATGCCTCAGTGATATACCTCCAAACAAGCTGCTATTATCACGAATAAATTT... |
Task1_train_10715 | Here’s a variant in GJA1 (gap junction protein alpha 1) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant palmoplantar keratoderma and congenital alopecia | ATGTGCTGAAAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGT... | ATGTGCTGAAAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGT... |
Task1_train_10716 | Given a variant located on Chromosome 6 and affecting GJA1 (gap junction protein alpha 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Oculodentodigital dysplasia | AAAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCT... | AAAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCT... |
Task1_train_10717 | Chromosome 6 houses a mutation in gene GJA1 (gap junction protein alpha 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Oculodentodigital dysplasia | AAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTA... | AAATTAGCCTATATTCCCTATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTA... |
Task1_train_10718 | A change on Chromosome 6 affects gene GJA1 (gap junction protein alpha 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Oculodentodigital dysplasia | TATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTA... | TATGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTA... |
Task1_train_10719 | Here is a mutation in GJA1 (gap junction protein alpha 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Oculodentodigital dysplasia | TGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGT... | TGCCTGCCACATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGT... |
Task1_train_10720 | This mutation occurs in GJA1 (gap junction protein alpha 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Oculodentodigital dysplasia | CATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAG... | CATCATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAG... |
Task1_train_10721 | Gene GJA1 (gap junction protein alpha 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | CATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCT... | CATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCT... |
Task1_train_10722 | This is a variant in GJA1 (gap junction protein alpha 1), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | ATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTC... | ATGTTACTCACTTCTTCCCAGCTTTCAGCCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTC... |
Task1_train_10723 | This genomic variant is located on Chromosome 6, within the GJA1 (gap junction protein alpha 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Oculodentodigital dysplasia | CCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTG... | CCCTGGCTAAGGTTGTGTATATCAAAGCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTG... |
Task1_train_10724 | A variant was discovered on Chromosome 6, affecting GJA1 (gap junction protein alpha 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Oculodentodigital dysplasia | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10725 | A variant affecting Chromosome 6, within the gene GJA1 (gap junction protein alpha 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant palmoplantar keratoderma and congenital alopecia | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10726 | This is a variant in GJA1 (gap junction protein alpha 1), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Atrioventricular septal defect and common atrioventricular junction | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10727 | Chromosome 6 houses a mutation in gene GJA1 (gap junction protein alpha 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Craniometaphyseal dysplasia, autosomal recessive | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10728 | Consider a variant on Chromosome 6 in gene GJA1 (gap junction protein alpha 1). Determine its clinical classification and disease relevance. | Pathogenic; Hypoplastic left heart syndrome 1 | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10729 | This gene mutation involves GJA1 (gap junction protein alpha 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10730 | A mutation in GJA1 (gap junction protein alpha 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Erythrokeratodermia variabilis et progressiva 3 | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10731 | Gene GJA1 (gap junction protein alpha 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Syndactyly type 3 | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10732 | This variant lies on Chromosome 6 and affects the gene GJA1 (gap junction protein alpha 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Oculodentodigital dysplasia | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10733 | This alteration in GJA1 (gap junction protein alpha 1) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... | GCCTGGAAACATTTCTAGCTTTAGCGCAGCCTTACTGTACTTTTAAAACCAGTGTGAGGCATTGAAAAGACTTGCCCGGGGATTGTGAATCTTCTTCTGGCTCTGTCTATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCC... |
Task1_train_10734 | A variant was discovered in gene GJA1 (gap junction protein alpha 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | ATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCAC... | ATAGCTAAATATTTCCTATACCCTGAGAACCTCTGAGAACCTCAATTTTTATCAGCTAAATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCAC... |
Task1_train_10735 | Mutation context: Chromosome 6, Gene GJA1 (gap junction protein alpha 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | ATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTG... | ATGGATAATCGGCAATTAGAAGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTG... |
Task1_train_10736 | A genetic alteration is present in GJA1 (gap junction protein alpha 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | AGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATT... | AGCATAAATTGAACTAGACAACTTTGGGGATTCTTGTTGGTTTCTACTGACTTACATCTTTTTAGTGAGACGGAGTCTCTCTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATT... |
Task1_train_10737 | The gene GJA1 (gap junction protein alpha 1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | TGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATAT... | TGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATAT... |
Task1_train_10738 | This variant lies on Chromosome 6 and affects the gene GJA1 (gap junction protein alpha 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Oculodentodigital dysplasia, autosomal recessive | GGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGT... | GGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGT... |
Task1_train_10739 | A sequence alteration has been identified in GJA1 (gap junction protein alpha 1) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Oculodentodigital dysplasia | GGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGT... | GGCGTGATCTCTGCAAGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGT... |
Task1_train_10740 | This variant affects the gene GJA1 (gap junction protein alpha 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Syndactyly type 3 | AGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCC... | AGCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCC... |
Task1_train_10741 | The gene GJA1 (gap junction protein alpha 1) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cutaneous finger syndactyly | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... |
Task1_train_10742 | The variant affects gene GJA1 (gap junction protein alpha 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... |
Task1_train_10743 | A mutation found in GJA1 (gap junction protein alpha 1) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Anteverted nares | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... |
Task1_train_10744 | Gene GJA1 (gap junction protein alpha 1), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Bilateral microphthalmos | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... | GGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAG... |
Task1_train_10745 | A sequence alteration has been identified in GJA1 (gap junction protein alpha 1) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; not provided | CTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACA... | CTTAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCACCACCACACCTGGCTAATTTCTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTGAATCTCCTGACCTCATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACA... |
Task1_train_10746 | Gene GJA1 (gap junction protein alpha 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oculodentodigital dysplasia | CATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGT... | CATGATCCACCCGCCTCCCAAAGTGCTTATAGGCGTGAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGT... |
Task1_train_10747 | This variant affects the gene GJA1 (gap junction protein alpha 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Oculodentodigital dysplasia | GAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGTGTGATGTGTATTTAGTCTTTGTTTTTCAAAGTAGGT... | GAGTGCATTATAGGCGTGAGCCACCACGCCTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGTGTGATGTGTATTTAGTCTTTGTTTTTCAAAGTAGGT... |
Task1_train_10748 | This variant impacts the gene GJA1 (gap junction protein alpha 1) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Oculodentodigital dysplasia | CTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGTGTGATGTGTATTTAGTCTTTGTTTTTCAAAGTAGGTTACTACATATAATGACACATTGTAGCAAA... | CTGGCCAGATCTTTTTCTTATCCTCAGTAATGGAGAAGGCGTGGACTTTAGATAGCTAGATATTGATAAGAAGTTAAATGGGATGTATAGCCTGAGGGTCCAAAGCCCAGTAAGGGAACTTTAAAGTATATAACAATGAAAGATGAAAACCAATCTTTTCTGGCTGGAGAAAACACCCTGAAGTAGGTTTTGTTTGTTTGTTTTTTAATAAGGCTGTGAGTAGTATTGAGACAAAATGAACTTTTTACATGAAGTGTGATGTGTATTTAGTCTTTGTTTTTCAAAGTAGGTTACTACATATAATGACACATTGTAGCAAA... |
Task1_train_10749 | A genomic change on Chromosome 6 affects GJA1 (gap junction protein alpha 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | CTTTGTTTTTCAAAGTAGGTTACTACATATAATGACACATTGTAGCAAAAGAGTATATTTCCATACAGCCTACTTTTTCTCTGGACAGAAGGCTGACTTCTGAGCTACATAAGTCACTGCTTAAGAAAAAAATAGTCACCATTGCTTGGGAGGCTAAGGCAGGAGGATTTCTTGAGCCCAGGGGCCTGGGCAACATAGTGAAATCCTATCTCTAAAAAAAGAAACAGAAAAGTGTAAATGACAATAATATAGGGTATGCACAAATTACACTTGATATACCATTGAAAAATCTTCCAGAGGCCAGGCGTGGTGGCTCACAC... | CTTTGTTTTTCAAAGTAGGTTACTACATATAATGACACATTGTAGCAAAAGAGTATATTTCCATACAGCCTACTTTTTCTCTGGACAGAAGGCTGACTTCTGAGCTACATAAGTCACTGCTTAAGAAAAAAATAGTCACCATTGCTTGGGAGGCTAAGGCAGGAGGATTTCTTGAGCCCAGGGGCCTGGGCAACATAGTGAAATCCTATCTCTAAAAAAAGAAACAGAAAAGTGTAAATGACAATAATATAGGGTATGCACAAATTACACTTGATATACCATTGAAAAATCTTCCAGAGGCCAGGCGTGGTGGCTCACAC... |
Task1_train_10750 | Here is a genetic alteration in TRDN (triadin) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 5 | TTCCTCTCTCAAAAAAGCTGTTTCTTTCTTTGTCACATGGCTAGGCTGCAAATTTTCCAAATTTTTATACTCTGCATCCCCTTTAAAGATAAGTTCCACTTTAAGTCATTTTTTTGTTCCCACATCTTTGAATAGGTTGGTAGAGGCAGCCAGGCTACATCTTGAATGTTTTACTGCTTAGATATTTCTTCCAGCAGATACACTACATCATTACTCTCAGGTCCGTACTTCTACAGATCCCTAGGGCATGAAAAGAATGCAGCCAAGATCTTTGCTAAGGCATAACATGCATCACCTTTGATCCAGTCTCCAATACATTC... | TTCCTCTCTCAAAAAAGCTGTTTCTTTCTTTGTCACATGGCTAGGCTGCAAATTTTCCAAATTTTTATACTCTGCATCCCCTTTAAAGATAAGTTCCACTTTAAGTCATTTTTTTGTTCCCACATCTTTGAATAGGTTGGTAGAGGCAGCCAGGCTACATCTTGAATGTTTTACTGCTTAGATATTTCTTCCAGCAGATACACTACATCATTACTCTCAGGTCCGTACTTCTACAGATCCCTAGGGCATGAAAAGAATGCAGCCAAGATCTTTGCTAAGGCATAACATGCATCACCTTTGATCCAGTCTCCAATACATTC... |
Task1_train_10751 | Gene TRDN (triadin), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ATTTGAGAAATATTATTAATAAATCATTCCAGAAAACAAAAAAAAATGCATAATTGATGTTCAGATAACATAGATCCTATGAACTGTTAAGGCCCGGAAGTGGAAAATGACCATCACCCAAGAATTAGATGGTATTTCTACTTTTTAATTTTATTACTAATGTAATTATTTTTATGGGTAACTCCAGAAGGTCTTCCAAGGCCCTTTTAAACCCCCGCAGAGCAAAGGCAGAAACAAAAGCTCTATTTCATAATCAAGAATTTTCCTGTAAAAAGTCTTTTGAATCAAATGCAAGTTCTACAAAACATAATCCACAAGCA... | ATTTGAGAAATATTATTAATAAATCATTCCAGAAAACAAAAAAAAATGCATAATTGATGTTCAGATAACATAGATCCTATGAACTGTTAAGGCCCGGAAGTGGAAAATGACCATCACCCAAGAATTAGATGGTATTTCTACTTTTTAATTTTATTACTAATGTAATTATTTTTATGGGTAACTCCAGAAGGTCTTCCAAGGCCCTTTTAAACCCCCGCAGAGCAAAGGCAGAAACAAAAGCTCTATTTCATAATCAAGAATTTTCCTGTAAAAAGTCTTTTGAATCAAATGCAAGTTCTACAAAACATAATCCACAAGCA... |
Task1_train_10752 | Consider a variant on Chromosome 6 in gene TRDN (triadin). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | ATTTGAGAAATATTATTAATAAATCATTCCAGAAAACAAAAAAAAATGCATAATTGATGTTCAGATAACATAGATCCTATGAACTGTTAAGGCCCGGAAGTGGAAAATGACCATCACCCAAGAATTAGATGGTATTTCTACTTTTTAATTTTATTACTAATGTAATTATTTTTATGGGTAACTCCAGAAGGTCTTCCAAGGCCCTTTTAAACCCCCGCAGAGCAAAGGCAGAAACAAAAGCTCTATTTCATAATCAAGAATTTTCCTGTAAAAAGTCTTTTGAATCAAATGCAAGTTCTACAAAACATAATCCACAAGCA... | ATTTGAGAAATATTATTAATAAATCATTCCAGAAAACAAAAAAAAATGCATAATTGATGTTCAGATAACATAGATCCTATGAACTGTTAAGGCCCGGAAGTGGAAAATGACCATCACCCAAGAATTAGATGGTATTTCTACTTTTTAATTTTATTACTAATGTAATTATTTTTATGGGTAACTCCAGAAGGTCTTCCAAGGCCCTTTTAAACCCCCGCAGAGCAAAGGCAGAAACAAAAGCTCTATTTCATAATCAAGAATTTTCCTGTAAAAAGTCTTTTGAATCAAATGCAAGTTCTACAAAACATAATCCACAAGCA... |
Task1_train_10753 | This genomic variant is located on Chromosome 6, within the LAMA2 (laminin subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Merosin deficient congenital muscular dystrophy | ACAATTTTGGTTTGGTTCAATTTGTTGCATAGGTAATAATAATCCATTTACAGAATACAAAAATAGTGTAAGTATGTGCTTCTTCCTATCTGTATGTTGAGAGATTCCTCATTCTTTTTTATGGTTGCAGATAATTCATTATGCAGATATACAATTTATTTAACCAGTCCCATATTGATGGATATTAGGTTATTTCCAGTCCTTTGATGTGACCAAAAAAGATTATAATAAAAAATGCTGAAAGAATAATATTGTCTTTGTCAGTTTGGGCGGCCATAAGAAAGTTCCATAGACTAGGTGGGTTGTAAACAAGAGAAATT... | ACAATTTTGGTTTGGTTCAATTTGTTGCATAGGTAATAATAATCCATTTACAGAATACAAAAATAGTGTAAGTATGTGCTTCTTCCTATCTGTATGTTGAGAGATTCCTCATTCTTTTTTATGGTTGCAGATAATTCATTATGCAGATATACAATTTATTTAACCAGTCCCATATTGATGGATATTAGGTTATTTCCAGTCCTTTGATGTGACCAAAAAAGATTATAATAAAAAATGCTGAAAGAATAATATTGTCTTTGTCAGTTTGGGCGGCCATAAGAAAGTTCCATAGACTAGGTGGGTTGTAAACAAGAGAAATT... |
Task1_train_10754 | This variant affects the gene LAMA2 (laminin subunit alpha 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; LAMA2-related muscular dystrophy | AAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAAGGGCTCCATGATTTACTGTTAGTAAAAAGAACCGGTTCTAAACAGTATACAAATG... | AAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAAGGGCTCCATGATTTACTGTTAGTAAAAAGAACCGGTTCTAAACAGTATACAAATG... |
Task1_train_10755 | A change on Chromosome 6 affects gene LAMA2 (laminin subunit alpha 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; LAMA2-related muscular dystrophy | TTAGATCTGCGAAGGTAGGCACAATATTTAAATCCCTTAGGACTAAGTGAGATCATTCAGAGGAGAGAGGAGAAGGGAACAGAAATCAGAAAACTGAATTGTGAAGCACGTTAAGAGATCAAGGACATGCCATAGATCCAACAAAGGAAACTGAAAAGGAACAACCAATGAACTGGGATAAAAACCAGAAGGAAATGGTTTCCAGGAAGCCCATTTATCTCTGCAGTGTCCATAGGAGATGACACAGAGAGCAAGCTCTGTAAATTTTAAAAATTCTGTTGAGGGGAGTTTGGAATTAGCAGCCATAGGGAAATGTAAAA... | TTAGATCTGCGAAGGTAGGCACAATATTTAAATCCCTTAGGACTAAGTGAGATCATTCAGAGGAGAGAGGAGAAGGGAACAGAAATCAGAAAACTGAATTGTGAAGCACGTTAAGAGATCAAGGACATGCCATAGATCCAACAAAGGAAACTGAAAAGGAACAACCAATGAACTGGGATAAAAACCAGAAGGAAATGGTTTCCAGGAAGCCCATTTATCTCTGCAGTGTCCATAGGAGATGACACAGAGAGCAAGCTCTGTAAATTTTAAAAATTCTGTTGAGGGGAGTTTGGAATTAGCAGCCATAGGGAAATGTAAAA... |
Task1_train_10756 | This mutation occurs in LAMA2 (laminin subunit alpha 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | AAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATACATTTTTAATTATCCTATCATAATACA... | AAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATACATTTTTAATTATCCTATCATAATACA... |
Task1_train_10757 | This variant affects gene LAMA2 (laminin subunit alpha 2) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Merosin deficient congenital muscular dystrophy | AAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATACATTTTTAATTATCCTATCATAATACA... | AAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATACATTTTTAATTATCCTATCATAATACA... |
Task1_train_10758 | This gene mutation involves ARG1 (arginase 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Arginase deficiency | GAATTTTTCAAAGAAAAAATTCTAGCAATCAAATTTGAAAGTTAGCAAATCTCCATGGATTGATTTATAAATCTAGTAAAAATTCTAGCAAATACTTTTAAGGAATTAGGTTATTCCAACTATAGGAGAATAGAGACCCATAAAAGGTAAATCAATTTTGAAAAAGAAGAGCAAAACAGTTACTCTTGCCTAAACAATGATAAGATGTACCGCAAAACTGTATTGATAAAACCTGATGGATCTGGTGCAGCCATAGGTAAATAAGTCAATGGAACAGAAGAAAGAGTTTAGTGACAGACAGCACTCCAATCAATTGCAAA... | GAATTTTTCAAAGAAAAAATTCTAGCAATCAAATTTGAAAGTTAGCAAATCTCCATGGATTGATTTATAAATCTAGTAAAAATTCTAGCAAATACTTTTAAGGAATTAGGTTATTCCAACTATAGGAGAATAGAGACCCATAAAAGGTAAATCAATTTTGAAAAAGAAGAGCAAAACAGTTACTCTTGCCTAAACAATGATAAGATGTACCGCAAAACTGTATTGATAAAACCTGATGGATCTGGTGCAGCCATAGGTAAATAAGTCAATGGAACAGAAGAAAGAGTTTAGTGACAGACAGCACTCCAATCAATTGCAAA... |
Task1_train_10759 | A variant on Chromosome 6 in gene ARG1 (arginase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not specified | GAATTTTTCAAAGAAAAAATTCTAGCAATCAAATTTGAAAGTTAGCAAATCTCCATGGATTGATTTATAAATCTAGTAAAAATTCTAGCAAATACTTTTAAGGAATTAGGTTATTCCAACTATAGGAGAATAGAGACCCATAAAAGGTAAATCAATTTTGAAAAAGAAGAGCAAAACAGTTACTCTTGCCTAAACAATGATAAGATGTACCGCAAAACTGTATTGATAAAACCTGATGGATCTGGTGCAGCCATAGGTAAATAAGTCAATGGAACAGAAGAAAGAGTTTAGTGACAGACAGCACTCCAATCAATTGCAAA... | GAATTTTTCAAAGAAAAAATTCTAGCAATCAAATTTGAAAGTTAGCAAATCTCCATGGATTGATTTATAAATCTAGTAAAAATTCTAGCAAATACTTTTAAGGAATTAGGTTATTCCAACTATAGGAGAATAGAGACCCATAAAAGGTAAATCAATTTTGAAAAAGAAGAGCAAAACAGTTACTCTTGCCTAAACAATGATAAGATGTACCGCAAAACTGTATTGATAAAACCTGATGGATCTGGTGCAGCCATAGGTAAATAAGTCAATGGAACAGAAGAAAGAGTTTAGTGACAGACAGCACTCCAATCAATTGCAAA... |
Task1_train_10760 | This mutation is located in gene ARG1, MED23 (arginase 1| mediator complex subunit 23) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Arginase deficiency | GTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTC... | GTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTC... |
Task1_train_10761 | This mutation occurs in ARG1, MED23 (arginase 1| mediator complex subunit 23) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arginase deficiency | ACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTCATAGCTTATTTGTTCTTAATTGCCGATAATATA... | ACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTCATAGCTTATTTGTTCTTAATTGCCGATAATATA... |
Task1_train_10762 | Consider this mutation in ARG1, MED23 (arginase 1| mediator complex subunit 23) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; ARG1-related disorder | ATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAA... | ATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAA... |
Task1_train_10763 | A genetic alteration is present in ARG1, MED23 (arginase 1| mediator complex subunit 23) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Arginase deficiency | ATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAA... | ATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAA... |
Task1_train_10764 | This is a variant in ARG1, MED23 (arginase 1| mediator complex subunit 23), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Arginase deficiency | CTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAG... | CTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAG... |
Task1_train_10765 | An alteration has been detected in ARG1, MED23 (arginase 1| mediator complex subunit 23) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Arginase deficiency | CTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAG... | CTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAG... |
Task1_train_10766 | This genomic variant is located on Chromosome 6, within the ARG1, MED23 (arginase 1| mediator complex subunit 23) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Arginase deficiency | CAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATATCAATAAAAAGTTTTTATTGATACAATTATAATATTTGGTCCTTATGATGATACAAG... | CAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATATCAATAAAAAGTTTTTATTGATACAATTATAATATTTGGTCCTTATGATGATACAAG... |
Task1_train_10767 | The variant affects gene MED23 (mediator complex subunit 23), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal recessive 18 | ATGCCTAAAAAGGTCTCATACCCACCCTTTTTCCTTAAAAGAAAAAATTAGACAAAATAAAAATAATCACCCAAACCAAAAAAGTCTATTACTATATGTTCAAGTTTTCTAAATTAAACATCATTAAAAATAATTAAACAAATTCAACTTACTTGCTCTTTCACGCTGTCACCAGTAAACATATACTTCATGTGATAGAGGAAGTCACAGATGGGATCCATGTAATTTAAATGGGTGCTACACTGGTCAACATTCAGCAGCATGTCATAAAACGCCACACCAATCTATTTAACAAATAATGTAAAATTATTTAAGTGATC... | ATGCCTAAAAAGGTCTCATACCCACCCTTTTTCCTTAAAAGAAAAAATTAGACAAAATAAAAATAATCACCCAAACCAAAAAAGTCTATTACTATATGTTCAAGTTTTCTAAATTAAACATCATTAAAAATAATTAAACAAATTCAACTTACTTGCTCTTTCACGCTGTCACCAGTAAACATATACTTCATGTGATAGAGGAAGTCACAGATGGGATCCATGTAATTTAAATGGGTGCTACACTGGTCAACATTCAGCAGCATGTCATAAAACGCCACACCAATCTATTTAACAAATAATGTAAAATTATTTAAGTGATC... |
Task1_train_10768 | Here is a mutation in MED23 (mediator complex subunit 23) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability, autosomal recessive 18 | TTGTGCACTTGTGTGACTGACTGAGCACTGAGTTAAATCAGCTGCTTTTTTTTTTTTGAATTCCAATTTTACTTGAAAGAACGTCTGACAGAAAACTATAGCTAGCTAGACTTACGTATTTAGCAGACATTTTCTTGAAAATTAACAAAATGAGCTTGTCACTTTAAGGAAAACAAATGATAGTAACTTTTTCCAATGATAAAATTTGACCTTTCAAGTAAAAATTGAAATTTTGGAAAACCTGTATCTACCACGACATGATAGCATTCCAAAACTTAGATTTTTCTAATAAACTTTGCAGTGATATTAACAAATGTAAT... | TTGTGCACTTGTGTGACTGACTGAGCACTGAGTTAAATCAGCTGCTTTTTTTTTTTTGAATTCCAATTTTACTTGAAAGAACGTCTGACAGAAAACTATAGCTAGCTAGACTTACGTATTTAGCAGACATTTTCTTGAAAATTAACAAAATGAGCTTGTCACTTTAAGGAAAACAAATGATAGTAACTTTTTCCAATGATAAAATTTGACCTTTCAAGTAAAAATTGAAATTTTGGAAAACCTGTATCTACCACGACATGATAGCATTCCAAAACTTAGATTTTTCTAATAAACTTTGCAGTGATATTAACAAATGTAAT... |
Task1_train_10769 | A variant was discovered on Chromosome 6, affecting MED23 (mediator complex subunit 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal recessive 18 | GAAGTCTTTCTAGGCATGTAAGTATAGAATTTCTGATAGCCAAATTCAGTTTATAATAAATAGTACTAGGCCAGGCATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAAGATCTCTTGAGCCCATGAGTTTGAGGCCAGCCTGGGCAATATGGCAAAACCCCATCTCTACAAAAAACACAAAAAACTAGCCGGGCATGGTGGCATATGCCTGTAGTCTCGGCTACTCAGGAGGCTGAGGTGGGGAGGGTCACCTGAGCCCCAAAGGTTGAGGGTGCGGTGAGCTGTGATTGTGCCACTATACT... | GAAGTCTTTCTAGGCATGTAAGTATAGAATTTCTGATAGCCAAATTCAGTTTATAATAAATAGTACTAGGCCAGGCATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAAGATCTCTTGAGCCCATGAGTTTGAGGCCAGCCTGGGCAATATGGCAAAACCCCATCTCTACAAAAAACACAAAAAACTAGCCGGGCATGGTGGCATATGCCTGTAGTCTCGGCTACTCAGGAGGCTGAGGTGGGGAGGGTCACCTGAGCCCCAAAGGTTGAGGGTGCGGTGAGCTGTGATTGTGCCACTATACT... |
Task1_train_10770 | Consider a variant on Chromosome 6 in gene MED23 (mediator complex subunit 23). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability, autosomal recessive 18 | GAATTTTATTTTTAGTTCAGATAGTTGAAGATCAATTTGCACAGGCTTTCCAAAGTTGAAAATATCGCATTTTGTCTAAATGTCTAGGGCAGAGATCAGCCAACTATAATCCATGGGCCAAATCCAGCCTGGCACCTGTTTTTGTAAAGTTTTATTGGAACACCACTGCTTTTGCAGTCCAATGGCAGAGCTGAGTAGCTGCAACAGATTCTGTAGCCTACGAAGCTTAAAATATTTACTACATGGCCCTTTACAGGAAAAAGTTTAAGACCACTAGTCCAGTGTCAACATGATTAAACTTTATGCACGATATTCCTAGA... | GAATTTTATTTTTAGTTCAGATAGTTGAAGATCAATTTGCACAGGCTTTCCAAAGTTGAAAATATCGCATTTTGTCTAAATGTCTAGGGCAGAGATCAGCCAACTATAATCCATGGGCCAAATCCAGCCTGGCACCTGTTTTTGTAAAGTTTTATTGGAACACCACTGCTTTTGCAGTCCAATGGCAGAGCTGAGTAGCTGCAACAGATTCTGTAGCCTACGAAGCTTAAAATATTTACTACATGGCCCTTTACAGGAAAAAGTTTAAGACCACTAGTCCAGTGTCAACATGATTAAACTTTATGCACGATATTCCTAGA... |
Task1_train_10771 | A variant was discovered on Chromosome 6, affecting MED23 (mediator complex subunit 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal recessive 18 | TCATTATAAAAAAATAAGTATATATAATATATATACACACACACAGACAATTGCTACTTGTCAATTAAAATAAAATATAGAGATATTATTTAATGGATTTATTGGGTTTCAACTGTAGCAAAGAATACATTTATATGTAAAAAATATCTAAAAATAAAGATTAATAAACAATGGAATGGATTGTTCATGGTTAGTAAATAACCTTGCACATGCTTTAAATATTGGCACACTTAAACAGGAGTGCAACAGACCAACGTAACAATTCTTGCGATACTAGTTACAAAGTACAAAGATCTTTTAAGTGGTCCATATGCTAAGGT... | TCATTATAAAAAAATAAGTATATATAATATATATACACACACACAGACAATTGCTACTTGTCAATTAAAATAAAATATAGAGATATTATTTAATGGATTTATTGGGTTTCAACTGTAGCAAAGAATACATTTATATGTAAAAAATATCTAAAAATAAAGATTAATAAACAATGGAATGGATTGTTCATGGTTAGTAAATAACCTTGCACATGCTTTAAATATTGGCACACTTAAACAGGAGTGCAACAGACCAACGTAACAATTCTTGCGATACTAGTTACAAAGTACAAAGATCTTTTAAGTGGTCCATATGCTAAGGT... |
Task1_train_10772 | Consider this mutation in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Hypopigmentation-punctate palmoplantar keratoderma syndrome | AGTAATGAACTTCAACAGTAAAAAACTGTCATGAAAAGTACTTTCCTCCCATGTCTACCATTTATTCATTTAGCAAAAATGTGCTAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAA... | AGTAATGAACTTCAACAGTAAAAAACTGTCATGAAAAGTACTTTCCTCCCATGTCTACCATTTATTCATTTAGCAAAAATGTGCTAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAA... |
Task1_train_10773 | A mutation in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypopigmentation-punctate palmoplantar keratoderma syndrome | CTCCCATGTCTACCATTTATTCATTTAGCAAAAATGTGCTAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGG... | CTCCCATGTCTACCATTTATTCATTTAGCAAAAATGTGCTAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGG... |
Task1_train_10774 | This mutation is located in gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypopigmentation-punctate palmoplantar keratoderma syndrome | TAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGGGAGCATGTTCTGAACAAACCCACTACTTCTTTACACCAG... | TAATCTCAACTATATGGCATGCACCTGGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGGGAGCATGTTCTGAACAAACCCACTACTTCTTTACACCAG... |
Task1_train_10775 | Gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arterial calcification, generalized, of infancy, 1 | GGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGGGAGCATGTTCTGAACAAACCCACTACTTCTTTACACCAGGATTGAGAGTGAGGCAGGCTAGGTAA... | GGCTGGGTTTTAGGGAGACAGTATGCTGGGCAAAGCCAGATGTGGTCTTGGTTTGCCGTCTAACTGGGATATTAACCAAATAACCTAGTTACGTGTGGAATTAAGTAATTGAGGGGAAGGACAAGGTTTTATATGAGCTTAAAAAAATGGAAATCAGGCCTAGCTGGGGAGTTAGGAAAGCTTTTTAGAGGGAGCCAGTCTGGATCTAAAGGTGAAATGGGTGTTTCAGGTCAGGGAGGGAAGAGCTATGCCAGGGAGCATGTTCTGAACAAACCCACTACTTCTTTACACCAGGATTGAGAGTGAGGCAGGCTAGGTAA... |
Task1_train_10776 | A genetic alteration is present in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypophosphatemic rickets, autosomal recessive, 2 | TGATTTAGGTATTTGACCACTAAGTAGTATCAAAGAACTTACAAGCATCATTTTATTATAACTTGTTCATCTTGAATGAAGTGATGTTATGGGTAATTGGCTTAATTATTTTAATGTTTTTCTGACTAAGAGAAAAATGAAGTCATCTTTAAGATTGGATTTGTATCCACAGTGTTGCTTTATAATTCATCCTGAATTTTTATCTGATTAAAATCCCTCCTGGGCTAATTTTTTTTACGTGATTTAGACTGCTGTGGTACCACTGCTAAATGAGGTAAGCCAATTGTCAGATGTATTTAATAACAATGTTTATTTTTTTC... | TGATTTAGGTATTTGACCACTAAGTAGTATCAAAGAACTTACAAGCATCATTTTATTATAACTTGTTCATCTTGAATGAAGTGATGTTATGGGTAATTGGCTTAATTATTTTAATGTTTTTCTGACTAAGAGAAAAATGAAGTCATCTTTAAGATTGGATTTGTATCCACAGTGTTGCTTTATAATTCATCCTGAATTTTTATCTGATTAAAATCCCTCCTGGGCTAATTTTTTTTACGTGATTTAGACTGCTGTGGTACCACTGCTAAATGAGGTAAGCCAATTGTCAGATGTATTTAATAACAATGTTTATTTTTTTC... |
Task1_train_10777 | Here is a genetic alteration in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Arterial calcification, generalized, of infancy, 1 | TCTTGTAGCTAATTTGTTAGTCCTACAAAGGTAGACCAGTCCTCAGGCAAGAAGTTGTTTTTTTTTCTGTGTGTGTGTTTTTTTTTTCTGGGCGGTGGGGAAGGGCTATTACCAACTTTGTTTCAGAGTTAAACTATCAACTAAATTCCTTCCCAAGGTTATTTCAGCCTATGCTCAGAAATGAACAAGGACAGCTTAAAGGTTAGAAGCAAGATGGAATTGGTTAGGTGTGATCTCTTTCACTGTCATAATTTGCTGTTACAATTTTTGCAAAGATGGTTTCAGAACCAAGAGAAGGAAAAGATGAGTGTATTAAAGAG... | TCTTGTAGCTAATTTGTTAGTCCTACAAAGGTAGACCAGTCCTCAGGCAAGAAGTTGTTTTTTTTTCTGTGTGTGTGTTTTTTTTTTCTGGGCGGTGGGGAAGGGCTATTACCAACTTTGTTTCAGAGTTAAACTATCAACTAAATTCCTTCCCAAGGTTATTTCAGCCTATGCTCAGAAATGAACAAGGACAGCTTAAAGGTTAGAAGCAAGATGGAATTGGTTAGGTGTGATCTCTTTCACTGTCATAATTTGCTGTTACAATTTTTGCAAAGATGGTTTCAGAACCAAGAGAAGGAAAAGATGAGTGTATTAAAGAG... |
Task1_train_10778 | A variant affecting Chromosome 6, within the gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ACTAAGCATAATATTTGATGAGCTTAGTGCAATTTTATGTTGAAGTGTGTGTTTTACTTGTGTGTCAGGATAAAGATTATACTAGAAAAAATGTTTAAGAGAGAAATCCAACTACATTTATTCAAGTTTAATTAATTAATGACACTCCATTAAAATTACTTAGTTTGGGATTAATATTCTGTTGTGAGGAGGAGTGCTGGCAGAAATGATTAATTCTATAGGCAATTGATTCCTGTCCTCCCTTAAACCATTTCAGAAACAATAAAGAATGTATCTTTTACATAGGGAAGAATGAATTTCACATCTCTTGACCACATGTG... | ACTAAGCATAATATTTGATGAGCTTAGTGCAATTTTATGTTGAAGTGTGTGTTTTACTTGTGTGTCAGGATAAAGATTATACTAGAAAAAATGTTTAAGAGAGAAATCCAACTACATTTATTCAAGTTTAATTAATTAATGACACTCCATTAAAATTACTTAGTTTGGGATTAATATTCTGTTGTGAGGAGGAGTGCTGGCAGAAATGATTAATTCTATAGGCAATTGATTCCTGTCCTCCCTTAAACCATTTCAGAAACAATAAAGAATGTATCTTTTACATAGGGAAGAATGAATTTCACATCTCTTGACCACATGTG... |
Task1_train_10779 | Consider this mutation in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Arterial calcification, generalized, of infancy, 1 | CCAATAATCCAGGTTTGAAAAATTTTTAAGAATTTGTCTATTGGCATTATAAAATTTATATGAGAAGAAGAAATAATTTTAAAACTATTTACAAGAAATAATTTTTAAAGTAGAAGGAAAAACCCTGTAGCTGTACCACCATAAACACCATTAGCGTTATGATATATTTCCTTCCAGTCTTTTTTTATGCCTTAAAAAATTAAGTTTCTGTACTAGTGCTGAGTTATCTATACTACATTTTATACTCATACATTTTAAGTCTGCAAGAAAACTCTTACAATTGCACTTACAAGGATGTTTGAAAATAGAACCATTAGTGG... | CCAATAATCCAGGTTTGAAAAATTTTTAAGAATTTGTCTATTGGCATTATAAAATTTATATGAGAAGAAGAAATAATTTTAAAACTATTTACAAGAAATAATTTTTAAAGTAGAAGGAAAAACCCTGTAGCTGTACCACCATAAACACCATTAGCGTTATGATATATTTCCTTCCAGTCTTTTTTTATGCCTTAAAAAATTAAGTTTCTGTACTAGTGCTGAGTTATCTATACTACATTTTATACTCATACATTTTAAGTCTGCAAGAAAACTCTTACAATTGCACTTACAAGGATGTTTGAAAATAGAACCATTAGTGG... |
Task1_train_10780 | This variant impacts the gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Arterial calcification, generalized, of infancy, 1 | AAACAAAAAGCTAAAAATCACATGTTCACTTGTAAGTGGTAGCTAAACAGTAGGCAAACACGGACATACAGAGTGGAATAATAAACATTGGAGACTCCCCAAAGGTGGGAGGGCAGGAGGAGTGTGAGGGATGAAATACCACTTATTGGGTACAATGTACACTATTCTGGTGATGGGTAACACTAAAAGCTCAGACTTCACCACTGTGCAATATATCCATGTAACATAACTGTACTCATACCCCTAAATTCATAAAGTTAAAAAATTAATAAAATTTTATATTCATGTTTCATAAACATATGACATATCTCCTATTATAT... | AAACAAAAAGCTAAAAATCACATGTTCACTTGTAAGTGGTAGCTAAACAGTAGGCAAACACGGACATACAGAGTGGAATAATAAACATTGGAGACTCCCCAAAGGTGGGAGGGCAGGAGGAGTGTGAGGGATGAAATACCACTTATTGGGTACAATGTACACTATTCTGGTGATGGGTAACACTAAAAGCTCAGACTTCACCACTGTGCAATATATCCATGTAACATAACTGTACTCATACCCCTAAATTCATAAAGTTAAAAAATTAATAAAATTTTATATTCATGTTTCATAAACATATGACATATCTCCTATTATAT... |
Task1_train_10781 | This mutation is located in gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypophosphatemic rickets, autosomal recessive, 2 | TGTATCCACTCATTCATTCACTACTACTTTGATTCACCATTCATTCCTTTGATATTTATAATCAGGTGCTCTAGGTACTGAGGACACAGCAGTGAACAAAATAGTGAGCTCTTCTCTGGGCCCAAGAGTAGAATACAATGATCCGTTTGCCATCCCTGATGGTAGTAGTCTTTCTATATATCGTTAAAATTCATGAAGATATGTCTCTCCTTAATTGTTTCTATGATAAACTTTCAGAATTACTTGTTCCTATAGAACACATTTCTCATTATTTTTCCCTTTATTCTTTAGAATTAAATACAGAATAGCAAGATTTTAGT... | TGTATCCACTCATTCATTCACTACTACTTTGATTCACCATTCATTCCTTTGATATTTATAATCAGGTGCTCTAGGTACTGAGGACACAGCAGTGAACAAAATAGTGAGCTCTTCTCTGGGCCCAAGAGTAGAATACAATGATCCGTTTGCCATCCCTGATGGTAGTAGTCTTTCTATATATCGTTAAAATTCATGAAGATATGTCTCTCCTTAATTGTTTCTATGATAAACTTTCAGAATTACTTGTTCCTATAGAACACATTTCTCATTATTTTTCCCTTTATTCTTTAGAATTAAATACAGAATAGCAAGATTTTAGT... |
Task1_train_10782 | Consider a variant on Chromosome 6 in gene EYA4 (EYA transcriptional coactivator and phosphatase 4). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | GAAAGAGAAACTTCCAAGCTATTGGATATATTCCAGTTTGGGGCTCCATGTTTGGATGAACTGTTAATAGGACCTCACTTTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTA... | GAAAGAGAAACTTCCAAGCTATTGGATATATTCCAGTTTGGGGCTCCATGTTTGGATGAACTGTTAATAGGACCTCACTTTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTA... |
Task1_train_10783 | This variant lies on Chromosome 6 and affects the gene EYA4 (EYA transcriptional coactivator and phosphatase 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dilated cardiomyopathy 1J | GAAAGAGAAACTTCCAAGCTATTGGATATATTCCAGTTTGGGGCTCCATGTTTGGATGAACTGTTAATAGGACCTCACTTTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTA... | GAAAGAGAAACTTCCAAGCTATTGGATATATTCCAGTTTGGGGCTCCATGTTTGGATGAACTGTTAATAGGACCTCACTTTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTA... |
Task1_train_10784 | A mutation on Chromosome 6 affecting AHI1 (Abelson helper integration site 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Joubert syndrome 3 | TTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCA... | TTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCA... |
Task1_train_10785 | Here is a genetic alteration in AHI1 (Abelson helper integration site 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not specified | TTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCA... | TTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCA... |
Task1_train_10786 | This alteration in AHI1 (Abelson helper integration site 1) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial aplasia of the vermis | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... |
Task1_train_10787 | This sequence change occurs on Chromosome 6, altering AHI1 (Abelson helper integration site 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; AHI1-related disorder | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... |
Task1_train_10788 | Gene AHI1 (Abelson helper integration site 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Joubert syndrome 3 | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... | GCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTATCT... |
Task1_train_10789 | An alteration has been detected in AHI1 (Abelson helper integration site 1) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Joubert syndrome 3 | AATAATACAAGGAATATTTGATCTCTGAAAAAAAATTAGATAAAACATATTATTAAACCATCTGCTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTAT... | AATAATACAAGGAATATTTGATCTCTGAAAAAAAATTAGATAAAACATATTATTAAACCATCTGCTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTAT... |
Task1_train_10790 | This sequence variant lies in AHI1 (Abelson helper integration site 1) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial aplasia of the vermis | CTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTATATCATATTATACTAATGCTGTAACAGTATCATAGTGATAATATCAGTATCAATCAATATCATTG... | CTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTATATCATATTATACTAATGCTGTAACAGTATCATAGTGATAATATCAGTATCAATCAATATCATTG... |
Task1_train_10791 | A mutation found in AHI1 (Abelson helper integration site 1) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Joubert syndrome 3 | CTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTATATCATATTATACTAATGCTGTAACAGTATCATAGTGATAATATCAGTATCAATCAATATCATTG... | CTAAATATGGTACATAGCCTTCCATATTTTTTCACTCACGAAAAAATAGTAAACACCATTTCAGCACACACTTTGTGCCAGGTAAGTATTATTATCATCTCTAACATCAAACAAAAGTGCACTAGAAGTCCATGTTGATTTTCCCAGAACACTGCTTCCACCTTTTTCAGGAAGGATATTTCCCTACATTTGCGATTATTTGGAAATAAACAAAAAAACAAGGACATATAAATCAAAAGCCCTCTCCTGTAGTTATATCATATTATACTAATGCTGTAACAGTATCATAGTGATAATATCAGTATCAATCAATATCATTG... |
Task1_train_10792 | Gene AHI1 (Abelson helper integration site 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Joubert syndrome 3 | TGGTCAATAATCAATTACTACAGTGAAGGCAAGCAGAGCAGGAGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAA... | TGGTCAATAATCAATTACTACAGTGAAGGCAAGCAGAGCAGGAGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAA... |
Task1_train_10793 | Assess the clinical impact of this variant on gene AHI1 (Abelson helper integration site 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Joubert syndrome 3 | AGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCA... | AGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCA... |
Task1_train_10794 | A mutation on Chromosome 6 affecting AHI1 (Abelson helper integration site 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial aplasia of the vermis | AGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCA... | AGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCA... |
Task1_train_10795 | This mutation occurs in AHI1 (Abelson helper integration site 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Joubert syndrome 3 | AACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCAAGTGA... | AACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCAAGTGA... |
Task1_train_10796 | A mutation in AHI1 (Abelson helper integration site 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial aplasia of the vermis | AACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCAAGTGA... | AACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGTTCAAGTGA... |
Task1_train_10797 | A mutation on Chromosome 6 affecting AHI1 (Abelson helper integration site 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial aplasia of the vermis | AGGGTCCTAATCCAATAGGGGGAGAGACAACAGGGGCGTGCATGCACAAAGATCATGTGAAGAGGCAGCAAGAGGGCAGCCAACTGTAAGCCAAGGAGAAGCCTCAGAAGAAATCAACCCAGTCATCACCTTGATCTTTGCTATGCACTGAATGCTATGTCCTCTCAAAAACTGTATGTTAAAGCTGTAATCCCCTATGTGATAGTATTTAGATGTGGGGGTCTTTGGGAGGTAATTTGGTCCTGAGAGTGAGAAGCTCATGAATCAGATTCGTGCCCTTATAAGAAAAGACGCGAGAAAGGTGATCTCTCTCTCCACCA... | AGGGTCCTAATCCAATAGGGGGAGAGACAACAGGGGCGTGCATGCACAAAGATCATGTGAAGAGGCAGCAAGAGGGCAGCCAACTGTAAGCCAAGGAGAAGCCTCAGAAGAAATCAACCCAGTCATCACCTTGATCTTTGCTATGCACTGAATGCTATGTCCTCTCAAAAACTGTATGTTAAAGCTGTAATCCCCTATGTGATAGTATTTAGATGTGGGGGTCTTTGGGAGGTAATTTGGTCCTGAGAGTGAGAAGCTCATGAATCAGATTCGTGCCCTTATAAGAAAAGACGCGAGAAAGGTGATCTCTCTCTCCACCA... |
Task1_train_10798 | A variant has been detected on Chromosome 6 in AHI1 (Abelson helper integration site 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial aplasia of the vermis | AGAAGCCTCAGAAGAAATCAACCCAGTCATCACCTTGATCTTTGCTATGCACTGAATGCTATGTCCTCTCAAAAACTGTATGTTAAAGCTGTAATCCCCTATGTGATAGTATTTAGATGTGGGGGTCTTTGGGAGGTAATTTGGTCCTGAGAGTGAGAAGCTCATGAATCAGATTCGTGCCCTTATAAGAAAAGACGCGAGAAAGGTGATCTCTCTCTCCACCATGTGAGAATATAGTGAAGAGGAGGCGGGCTCCAAGTCAAAAAGTGGACCCTCACCAGGAACTAGGCTGGCTAGCATCTTGATCTTGGACTTCTCGG... | AGAAGCCTCAGAAGAAATCAACCCAGTCATCACCTTGATCTTTGCTATGCACTGAATGCTATGTCCTCTCAAAAACTGTATGTTAAAGCTGTAATCCCCTATGTGATAGTATTTAGATGTGGGGGTCTTTGGGAGGTAATTTGGTCCTGAGAGTGAGAAGCTCATGAATCAGATTCGTGCCCTTATAAGAAAAGACGCGAGAAAGGTGATCTCTCTCTCCACCATGTGAGAATATAGTGAAGAGGAGGCGGGCTCCAAGTCAAAAAGTGGACCCTCACCAGGAACTAGGCTGGCTAGCATCTTGATCTTGGACTTCTCGG... |
Task1_train_10799 | A mutation in AHI1 (Abelson helper integration site 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Joubert syndrome 3 | AGAGCTGTTGTAATTATTAAATTATACAAAGTAGGCCAAATGGTTAAATAGTAAACACTCAGCAAATATGCTATCACTGTTTATAAAAGGGCGTCTCACTTGATTCCACAGCATTGGAAAACTAAATCCTAGAGATTAAATTCTCACACAACTTTTTTTTTTGCCTTACTGGACTACTAAAAATAATAGCTTACATTTGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGGTCCATTCAATTCATACCTCAAAGAACAGGATGACTTTAGGACTCTCATCAGAGCCTCGAAGCAAATAGGGAAAATTTTCATTAA... | AGAGCTGTTGTAATTATTAAATTATACAAAGTAGGCCAAATGGTTAAATAGTAAACACTCAGCAAATATGCTATCACTGTTTATAAAAGGGCGTCTCACTTGATTCCACAGCATTGGAAAACTAAATCCTAGAGATTAAATTCTCACACAACTTTTTTTTTTGCCTTACTGGACTACTAAAAATAATAGCTTACATTTGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGGTCCATTCAATTCATACCTCAAAGAACAGGATGACTTTAGGACTCTCATCAGAGCCTCGAAGCAAATAGGGAAAATTTTCATTAA... |
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