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_19300 | The gene DZIP1 (DAZ interacting zinc finger protein 1), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Spermatogenic failure 47 | TAAAAATGTTTAAATAGAATCCATTATATTCGTTGCACAAGAAAAAAACCATCTTAGCACTATTTGTAAATATTTAATTTTTAAGCAGCATTTATAAAACAAATAAGCAATTAGCAATGCCCAGTGTCATTTGAAGATTATACCTCAGGGTTGTCTACCCAAGACCAAACACTAAGTCCTTCTAATAATATTCCTAATTGTTCCCTTATCTTTTTTATTTTTATTTATTTTTTTTTTTTTGAGATAGATTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTT... | TAAAAATGTTTAAATAGAATCCATTATATTCGTTGCACAAGAAAAAAACCATCTTAGCACTATTTGTAAATATTTAATTTTTAAGCAGCATTTATAAAACAAATAAGCAATTAGCAATGCCCAGTGTCATTTGAAGATTATACCTCAGGGTTGTCTACCCAAGACCAAACACTAAGTCCTTCTAATAATATTCCTAATTGTTCCCTTATCTTTTTTATTTTTATTTATTTTTTTTTTTTTGAGATAGATTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTT... |
Task1_train_19301 | The variant affects gene DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | AATTTTAGTTTTGTACATTTTTTTCTGTCTAATGTTACCTTTGTTGTAAAATTATCTTTTTTTAAGGAATGCTTTGTAAAGCTTAGTTCTAATATTACAGAATTCATAGTTATGTAATTAATCTCAAAATCACTCACCATTGAAGACCCTTGCTATTTTTATTTCCTATAACACGAAGTCTATTATCTCCTTAATAATTTTTAATTTCCATCCTTAGAACTTCTTCAGCTCTGCTACTTTTTCCTTAAGGCCAGGGTCATAGGCAGCACACTGGTGATAACTCACTGTCTAGAAATATTGCATTTTGTTTACAAAGTTAT... | AATTTTAGTTTTGTACATTTTTTTCTGTCTAATGTTACCTTTGTTGTAAAATTATCTTTTTTTAAGGAATGCTTTGTAAAGCTTAGTTCTAATATTACAGAATTCATAGTTATGTAATTAATCTCAAAATCACTCACCATTGAAGACCCTTGCTATTTTTATTTCCTATAACACGAAGTCTATTATCTCCTTAATAATTTTTAATTTCCATCCTTAGAACTTCTTCAGCTCTGCTACTTTTTCCTTAAGGCCAGGGTCATAGGCAGCACACTGGTGATAACTCACTGTCTAGAAATATTGCATTTTGTTTACAAAGTTAT... |
Task1_train_19302 | This mutation occurs in OXGR1 (oxoglutarate receptor 1) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | GAGATTACAGGCGTGAGCCACTGCACCCTGCCAACTCTTTGGAATAAGAAGGAATAAAGATGAGGAGAGAAAGAAAAGGGGTTTGTGCCCAAGGCTAGAATAACGACAGCAGTGGAATACAGGCAAGTCTGTCTGCACTTTAGTGATAGCCCAGGGGCTGGGCTAGGCATCGGGGAAAAGAAAAAGAGCTAGCAGTTCCAGGTGGACCTCTGAATACTTCTCGATGCTGTACAGCCAGGGCAGATGAGCAAATTGGGGTCCTCTAGTGAAATAGCTTATTCCACATGTTATAGAAAGGCTCAGAAGAAGATGGCTCAGAA... | GAGATTACAGGCGTGAGCCACTGCACCCTGCCAACTCTTTGGAATAAGAAGGAATAAAGATGAGGAGAGAAAGAAAAGGGGTTTGTGCCCAAGGCTAGAATAACGACAGCAGTGGAATACAGGCAAGTCTGTCTGCACTTTAGTGATAGCCCAGGGGCTGGGCTAGGCATCGGGGAAAAGAAAAAGAGCTAGCAGTTCCAGGTGGACCTCTGAATACTTCTCGATGCTGTACAGCCAGGGCAGATGAGCAAATTGGGGTCCTCTAGTGAAATAGCTTATTCCACATGTTATAGAAAGGCTCAGAAGAAGATGGCTCAGAA... |
Task1_train_19303 | This variant affects gene OXGR1 (oxoglutarate receptor 1) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | TTCCACATGTTATAGAAAGGCTCAGAAGAAGATGGCTCAGAAGGTAGGGATTGCAAAAAGCACCATTGTCCAGAAAACTTCATGTTCAGATCCATCGGCTTGCTCTTCCTTCTCTCAACTTGCTCTGAAGAGGTTCCTGATGAATATCCTCACTTAAGTCTAAGTCAGATGTCATGTCCTAGAAGAACTGGAACATCAGGAAGAATTTCTATGGTACCCTTCCCTCTGTGTAAGTCAACTATTTCTGCCTTATTCTATAATATTATTGATTCTTAACTTATTTTTGTTCCTAACCATAGAGCAAATAAGTTTCATGTAAA... | TTCCACATGTTATAGAAAGGCTCAGAAGAAGATGGCTCAGAAGGTAGGGATTGCAAAAAGCACCATTGTCCAGAAAACTTCATGTTCAGATCCATCGGCTTGCTCTTCCTTCTCTCAACTTGCTCTGAAGAGGTTCCTGATGAATATCCTCACTTAAGTCTAAGTCAGATGTCATGTCCTAGAAGAACTGGAACATCAGGAAGAATTTCTATGGTACCCTTCCCTCTGTGTAAGTCAACTATTTCTGCCTTATTCTATAATATTATTGATTCTTAACTTATTTTTGTTCCTAACCATAGAGCAAATAAGTTTCATGTAAA... |
Task1_train_19304 | A variant affecting Chromosome 13, within the gene ZIC2 (Zic family member 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Holoprosencephaly 5 | ACTAGTTCCGGGCCCAGCGCCCAGGCCCGACCGGCGGGAGGGAGGAGGCGAGCGAGAGATCACTTTTTTATTGTTGTTATTGTTTTTCAGCCCAGCCTCCCCCTCCTCCCCTCCCCCTGCTCGCTTTCTCCCCTCCCACATCCCCCTCCCCCCTACTCCCCCGCCTCCTCCTCCGGCACAACTTAAAGAAAGGGGGAGCGGCGCGGCTGCTGCCTTCATCTGGGGAAATTCGTGGCCACTGCAAGTTTACTACGCGAGGCGCAGCCAATGCCAAGCGCCGAGGCCGAGGAGGGCTAAACACTGCGGCCGCGGCTCCGAAC... | ACTAGTTCCGGGCCCAGCGCCCAGGCCCGACCGGCGGGAGGGAGGAGGCGAGCGAGAGATCACTTTTTTATTGTTGTTATTGTTTTTCAGCCCAGCCTCCCCCTCCTCCCCTCCCCCTGCTCGCTTTCTCCCCTCCCACATCCCCCTCCCCCCTACTCCCCCGCCTCCTCCTCCGGCACAACTTAAAGAAAGGGGGAGCGGCGCGGCTGCTGCCTTCATCTGGGGAAATTCGTGGCCACTGCAAGTTTACTACGCGAGGCGCAGCCAATGCCAAGCGCCGAGGCCGAGGAGGGCTAAACACTGCGGCCGCGGCTCCGAAC... |
Task1_train_19305 | The variant affects gene PCCA (propionyl-CoA carboxylase subunit alpha), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Propionic acidemia | TAACCCAAAAGTTGTCTATGTCACTTGTGCTTATGTCCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTT... | TAACCCAAAAGTTGTCTATGTCACTTGTGCTTATGTCCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTT... |
Task1_train_19306 | A variant found in Chromosome 13 affects PCCA (propionyl-CoA carboxylase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Propionic acidemia | GGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAACTCTAACTCTTCTTTTAGAAATATAACTGACACTTTTTTTCTGTAGTTCCGTTGAACTTAAAAATAATTCACAAATACAGAAATTACCGTGTGCTAATGTGTATTACATCCAAATTA... | GGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAACTCTAACTCTTCTTTTAGAAATATAACTGACACTTTTTTTCTGTAGTTCCGTTGAACTTAAAAATAATTCACAAATACAGAAATTACCGTGTGCTAATGTGTATTACATCCAAATTA... |
Task1_train_19307 | The gene PCCA (propionyl-CoA carboxylase subunit alpha) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Propionic acidemia | ACACATAAACACATGTGCCTATGTGTATCTTTTAATTTCTTTTCCTTGATAAACCACCAATTGCCATATGTATTGCCAAGATTAAGAAGACTTTATGTAGGTGTAGATTTTTACCTTAAACATAATGAAAAAAAAATAATAAAAGTTGCAACTTTTTGTACCTCAAAGACAATGGCTTTTAACATTTGATAATGAAAGTTATTAAGCAAGCTGCTATCCAAGTGTATCTATGAGTAAATAGCTTTAATCACATAACATTGGGCTAGGGGAGATTAAAAAAAGAATTTAAGGCGTAACCTTATGATCTGGTGGAGGAGAAA... | ACACATAAACACATGTGCCTATGTGTATCTTTTAATTTCTTTTCCTTGATAAACCACCAATTGCCATATGTATTGCCAAGATTAAGAAGACTTTATGTAGGTGTAGATTTTTACCTTAAACATAATGAAAAAAAAATAATAAAAGTTGCAACTTTTTGTACCTCAAAGACAATGGCTTTTAACATTTGATAATGAAAGTTATTAAGCAAGCTGCTATCCAAGTGTATCTATGAGTAAATAGCTTTAATCACATAACATTGGGCTAGGGGAGATTAAAAAAAGAATTTAAGGCGTAACCTTATGATCTGGTGGAGGAGAAA... |
Task1_train_19308 | This variant affects the gene PCCA (propionyl-CoA carboxylase subunit alpha) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pontocerebellar hypoplasia type 2D | GAAATCAAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTC... | GAAATCAAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTC... |
Task1_train_19309 | Chromosome 13 houses a mutation in gene PCCA (propionyl-CoA carboxylase subunit alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Propionic acidemia | GAAATCAAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTC... | GAAATCAAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTC... |
Task1_train_19310 | A variant affecting Chromosome 13, within the gene PCCA (propionyl-CoA carboxylase subunit alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Propionic acidemia | AAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATT... | AAAGGCTTTGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATT... |
Task1_train_19311 | Given this context: Chromosome 13, gene PCCA (propionyl-CoA carboxylase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Propionic acidemia | GATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACCATCCTGCAGATAACTCTGTACTTCAACTGAATTGTTTCAGTCAT... | GATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACCATCCTGCAGATAACTCTGTACTTCAACTGAATTGTTTCAGTCAT... |
Task1_train_19312 | An alteration has been detected in PCCA (propionyl-CoA carboxylase subunit alpha) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Propionic acidemia | ACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTATT... | ACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTATT... |
Task1_train_19313 | This is a variant in PCCA (propionyl-CoA carboxylase subunit alpha), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Propionic acidemia | ACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTATTTAATGGAATAAATA... | ACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTATTTAATGGAATAAATA... |
Task1_train_19314 | A variant was discovered in gene PCCA (propionyl-CoA carboxylase subunit alpha), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Propionic acidemia | TTAATTGTTAGTTGGGGTTTTTTTTAGTTGCATTAATTTTGTCAGCCAGTTATTGTTGAAATGTCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATATGAATGTTAAAAGACACCGTGGGGTTGCATGCAGTTGAACCAA... | TTAATTGTTAGTTGGGGTTTTTTTTAGTTGCATTAATTTTGTCAGCCAGTTATTGTTGAAATGTCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATATGAATGTTAAAAGACACCGTGGGGTTGCATGCAGTTGAACCAA... |
Task1_train_19315 | This alteration occurs within gene PCCA (propionyl-CoA carboxylase subunit alpha) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Propionic acidemia | GGAAGATAATGTCATCTCTTTAGTGAGATAAATTCCAACTCCATCGTGACCACTTACCATAGATGTGACTCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCT... | GGAAGATAATGTCATCTCTTTAGTGAGATAAATTCCAACTCCATCGTGACCACTTACCATAGATGTGACTCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCT... |
Task1_train_19316 | Assess the clinical impact of this variant on gene PCCA (propionyl-CoA carboxylase subunit alpha), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Propionic acidemia | TCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTA... | TCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTA... |
Task1_train_19317 | This mutation occurs in PCCA (propionyl-CoA carboxylase subunit alpha) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Propionic acidemia | TGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATG... | TGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATG... |
Task1_train_19318 | Consider a variant on Chromosome 13 in gene NALCN (sodium leak channel, non-selective). Determine its clinical classification and disease relevance. | Pathogenic; Neurodevelopmental disorder | CCACCGCCACACAAATCTTATTTTCTTCTCCCCTCTCCTAAGACCTGCATGACGGGTGACCTCTTAGGAATTTCCAAGTAAGGATCCTGAACTAATTTCAATGTTCAATTAAGGTAGGCTGATGCAAAGGTGGGCTTAGAGAGGTATGCATTGACTTCCCAGTCCATTTTCATTTGTGTAACAATCAGAATAGTGACGGTCATTGATGCTTGTATTTTATTTATTTGTTTTTCTTTTTGTTGTTGGTGTTTTCTGTTTTTTTTTTTTTTTTTTTAGATAGGATCTCACTATGTCCCGTAGACTAGAGTTCAGTGGTGCGA... | CCACCGCCACACAAATCTTATTTTCTTCTCCCCTCTCCTAAGACCTGCATGACGGGTGACCTCTTAGGAATTTCCAAGTAAGGATCCTGAACTAATTTCAATGTTCAATTAAGGTAGGCTGATGCAAAGGTGGGCTTAGAGAGGTATGCATTGACTTCCCAGTCCATTTTCATTTGTGTAACAATCAGAATAGTGACGGTCATTGATGCTTGTATTTTATTTATTTGTTTTTCTTTTTGTTGTTGGTGTTTTCTGTTTTTTTTTTTTTTTTTTTAGATAGGATCTCACTATGTCCCGTAGACTAGAGTTCAGTGGTGCGA... |
Task1_train_19319 | A genomic change on Chromosome 13 affects NALCN (sodium leak channel, non-selective). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | CCTCTTCACTCAATCGGGATGCTAGGAACGTCTCAATGTTTATTACATGTTTTTCTACCATTAAAAGATAACTCGTGTTGGATCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGATGAAGCCCAGTCTCTACTAAAAATAAAAAAATTACCCGGACATAGTGGTACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCTGGGGAATCACTTGAACCCAGGAAGCAGAGGTTGCACCACTGCATTCCAGCCTGGAGACAGAGTGG... | CCTCTTCACTCAATCGGGATGCTAGGAACGTCTCAATGTTTATTACATGTTTTTCTACCATTAAAAGATAACTCGTGTTGGATCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGATGAAGCCCAGTCTCTACTAAAAATAAAAAAATTACCCGGACATAGTGGTACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCTGGGGAATCACTTGAACCCAGGAAGCAGAGGTTGCACCACTGCATTCCAGCCTGGAGACAGAGTGG... |
Task1_train_19320 | Located on Chromosome 13, this mutation impacts NALCN (sodium leak channel, non-selective). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | TCACTCAATCGGGATGCTAGGAACGTCTCAATGTTTATTACATGTTTTTCTACCATTAAAAGATAACTCGTGTTGGATCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGATGAAGCCCAGTCTCTACTAAAAATAAAAAAATTACCCGGACATAGTGGTACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCTGGGGAATCACTTGAACCCAGGAAGCAGAGGTTGCACCACTGCATTCCAGCCTGGAGACAGAGTGGGACTC... | TCACTCAATCGGGATGCTAGGAACGTCTCAATGTTTATTACATGTTTTTCTACCATTAAAAGATAACTCGTGTTGGATCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGATGAAGCCCAGTCTCTACTAAAAATAAAAAAATTACCCGGACATAGTGGTACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCTGGGGAATCACTTGAACCCAGGAAGCAGAGGTTGCACCACTGCATTCCAGCCTGGAGACAGAGTGGGACTC... |
Task1_train_19321 | A variant found in Chromosome 13 affects NALCN (sodium leak channel, non-selective). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | TTGAAAGGAAAGCCCTCAAGACTGAAGCCTGGGCGGGCAGGGGTACCAAGAAGAGGGAGCAAATTGGGGTGAGTGCACTGCCGGAGCCCCTCATTTATGATGCCCAGGCTGGCTTCTTGGTCTTTGTGCCCTTCATCAACTCTTCTTGAACTATTTCCAGATCTCGCCCCAAATACCCTGGCAGAACTTTCCTTGTTGTTCAGACATGAGGTCCCACAGCACCCCTCAGGCCTCCTTCATGGTCATTCCTGCCGGCGCAGCCCCAACCCCAACTACTGTCTATAGTTTTAACTTCTGGAAATACTGCACTATTTATTATT... | TTGAAAGGAAAGCCCTCAAGACTGAAGCCTGGGCGGGCAGGGGTACCAAGAAGAGGGAGCAAATTGGGGTGAGTGCACTGCCGGAGCCCCTCATTTATGATGCCCAGGCTGGCTTCTTGGTCTTTGTGCCCTTCATCAACTCTTCTTGAACTATTTCCAGATCTCGCCCCAAATACCCTGGCAGAACTTTCCTTGTTGTTCAGACATGAGGTCCCACAGCACCCCTCAGGCCTCCTTCATGGTCATTCCTGCCGGCGCAGCCCCAACCCCAACTACTGTCTATAGTTTTAACTTCTGGAAATACTGCACTATTTATTATT... |
Task1_train_19322 | A genomic change on Chromosome 13 affects NALCN (sodium leak channel, non-selective). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | CTTGGGGATGTCTTCCAAGACCTCTCTGATGAAGCCATCTCCCACTATTATCTATGTTGTCACAGGAACACAGGCTCTCCTTCATCTCCCTCATCATAGTCATTATACTCATAGATTTGTGAGCAATTGATGACTATCTATCTACTTTTCTAGGATATAAGGTTCACAAGAGCAGCAACTATATTTGTTTTGCTTATTACATTCTTCTCAGTTACTAGTACTGTGTCTTGTACTAGGAATTGAGAACCATTTATTGCTGAGAAAATACTTCAGGATGACTGAGAGCTCACCTAGGCTTCATACAGCCCCTGATGCTGAAG... | CTTGGGGATGTCTTCCAAGACCTCTCTGATGAAGCCATCTCCCACTATTATCTATGTTGTCACAGGAACACAGGCTCTCCTTCATCTCCCTCATCATAGTCATTATACTCATAGATTTGTGAGCAATTGATGACTATCTATCTACTTTTCTAGGATATAAGGTTCACAAGAGCAGCAACTATATTTGTTTTGCTTATTACATTCTTCTCAGTTACTAGTACTGTGTCTTGTACTAGGAATTGAGAACCATTTATTGCTGAGAAAATACTTCAGGATGACTGAGAGCTCACCTAGGCTTCATACAGCCCCTGATGCTGAAG... |
Task1_train_19323 | A genomic change on Chromosome 13 affects NALCN (sodium leak channel, non-selective). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | GTATTAACTTGAGATGCATTATGTGTATGTATTTTTTTCAAATGAAGAAAATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCA... | GTATTAACTTGAGATGCATTATGTGTATGTATTTTTTTCAAATGAAGAAAATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCA... |
Task1_train_19324 | A variant was discovered in gene NALCN (sodium leak channel, non-selective), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inborn genetic diseases | GTATTAACTTGAGATGCATTATGTGTATGTATTTTTTTCAAATGAAGAAAATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCA... | GTATTAACTTGAGATGCATTATGTGTATGTATTTTTTTCAAATGAAGAAAATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCA... |
Task1_train_19325 | This variant impacts the gene NALCN (sodium leak channel, non-selective) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCACGTGCAACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTT... | AATTTTAAATTATTTGATGTGGACACAGTATCTTTTCCATTGAAAATGAGACAAACACTTTAATGCCCTTTGAGGTTTCCTTTTAGGCCACGTGCCTACACTATCTATCTGTCTGTCTGTCTATTTATTTATTATTATTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTATAGGCACGTGCAACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTT... |
Task1_train_19326 | The following genetic variant occurs in NALCN (sodium leak channel, non-selective) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | CAAACAGGCCACGTTACTCTTTCCTACCTGCAGAACATAAATACAGTGCTGGATGGAGACCTCCCTGGTTATTCTGCTAACCTCAGCCACTTCTCTAAGCTCAAGTGTTGCAATTAATTATACATTTATTTCCAGTTACTGAACATTTTATGTTGTTCTATGTATGTTGCTGAATTGTGAGCTGTGATACATTCTAATCTTCCTGAAATCAGGTGTCTGCTCAGACGGCTTCTTAACGGTGTTCTGGGCAAGCAGTGCCTAAACTCTCCTGTTAATTGACTGATTAGCTTCTGCTTATATTCTAGAATTCTCAGTGTCTG... | CAAACAGGCCACGTTACTCTTTCCTACCTGCAGAACATAAATACAGTGCTGGATGGAGACCTCCCTGGTTATTCTGCTAACCTCAGCCACTTCTCTAAGCTCAAGTGTTGCAATTAATTATACATTTATTTCCAGTTACTGAACATTTTATGTTGTTCTATGTATGTTGCTGAATTGTGAGCTGTGATACATTCTAATCTTCCTGAAATCAGGTGTCTGCTCAGACGGCTTCTTAACGGTGTTCTGGGCAAGCAGTGCCTAAACTCTCCTGTTAATTGACTGATTAGCTTCTGCTTATATTCTAGAATTCTCAGTGTCTG... |
Task1_train_19327 | This variant lies on Chromosome 13 and affects the gene NALCN (sodium leak channel, non-selective). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ACCGTGCCAATTTCTTTTCAATCGTTCTGCTTGGTGCTGGTGCTCTCTATGATGGCTGAGTCTCCTTAGGCTTTCCATCTGAGCCTCGCACAGACCTCACTGCTCTAGGAAACAGGATAAATGCATCATGAAATCTGTGTCTATGCTCATCTGCTGGCTGCTGTCACCATCAATCTTCAGCTTTGGCTGGGTATGAGTGGATAATGTAAAATCACCATGCTCTTAGGCCACTGTTAATATACTGAGTCATCCAAGATTCCTAGCAGGCTTCATCCTGAAGTGTTATTATCTTTCTGGCCTCTGTTCAGTGTGGATCAAAA... | ACCGTGCCAATTTCTTTTCAATCGTTCTGCTTGGTGCTGGTGCTCTCTATGATGGCTGAGTCTCCTTAGGCTTTCCATCTGAGCCTCGCACAGACCTCACTGCTCTAGGAAACAGGATAAATGCATCATGAAATCTGTGTCTATGCTCATCTGCTGGCTGCTGTCACCATCAATCTTCAGCTTTGGCTGGGTATGAGTGGATAATGTAAAATCACCATGCTCTTAGGCCACTGTTAATATACTGAGTCATCCAAGATTCCTAGCAGGCTTCATCCTGAAGTGTTATTATCTTTCTGGCCTCTGTTCAGTGTGGATCAAAA... |
Task1_train_19328 | The variant affects gene NALCN (sodium leak channel, non-selective), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CCGTGCCAATTTCTTTTCAATCGTTCTGCTTGGTGCTGGTGCTCTCTATGATGGCTGAGTCTCCTTAGGCTTTCCATCTGAGCCTCGCACAGACCTCACTGCTCTAGGAAACAGGATAAATGCATCATGAAATCTGTGTCTATGCTCATCTGCTGGCTGCTGTCACCATCAATCTTCAGCTTTGGCTGGGTATGAGTGGATAATGTAAAATCACCATGCTCTTAGGCCACTGTTAATATACTGAGTCATCCAAGATTCCTAGCAGGCTTCATCCTGAAGTGTTATTATCTTTCTGGCCTCTGTTCAGTGTGGATCAAAAA... | CCGTGCCAATTTCTTTTCAATCGTTCTGCTTGGTGCTGGTGCTCTCTATGATGGCTGAGTCTCCTTAGGCTTTCCATCTGAGCCTCGCACAGACCTCACTGCTCTAGGAAACAGGATAAATGCATCATGAAATCTGTGTCTATGCTCATCTGCTGGCTGCTGTCACCATCAATCTTCAGCTTTGGCTGGGTATGAGTGGATAATGTAAAATCACCATGCTCTTAGGCCACTGTTAATATACTGAGTCATCCAAGATTCCTAGCAGGCTTCATCCTGAAGTGTTATTATCTTTCTGGCCTCTGTTCAGTGTGGATCAAAAA... |
Task1_train_19329 | This genomic variant is located on Chromosome 13, within the NALCN (sodium leak channel, non-selective) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TAAGGTATTTTTGATATGGCTTGAACTTTTCTGACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAGCTAATTT... | TAAGGTATTTTTGATATGGCTTGAACTTTTCTGACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAGCTAATTT... |
Task1_train_19330 | Located on Chromosome 13, this mutation impacts NALCN (sodium leak channel, non-selective). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | ACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATA... | ACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATA... |
Task1_train_19331 | A genetic alteration is present in NALCN (sodium leak channel, non-selective) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TAGGCTAGTGCAATTGGATAACCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAA... | TAGGCTAGTGCAATTGGATAACCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAA... |
Task1_train_19332 | This alteration in NALCN (sodium leak channel, non-selective) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTGGATAACCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAAATGAACACTGCAA... | TTGGATAACCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAAATGAACACTGCAA... |
Task1_train_19333 | This gene mutation involves NALCN (sodium leak channel, non-selective) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | CCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAAATGAACACTGCAAAGTATCCT... | CCAGTTCTGATATACAGAATTTCCAGAAACACAAAGCTTCACTAATATCTAGCAAGTGATTAAAAGCCATTTTATAAATAATGACATTTACCCAAAGTGAAGGGCCATATAGTTTATTAAAACTTTATAGCCCAGGAAGAATGTCAATGCCAATTAAAGTCCTGACTTTTTATTGTTGCTTCTTCACTTTGGGTCAGATATGAAATGCCTATTGTGACCACTAGATATAAAGATGACAAAAAATTTAAGTAGGCTATGCATATACGTGTATATATAAATAAGTTAAAATGTTGAAAAAAATGAACACTGCAAAGTATCCT... |
Task1_train_19334 | A variant found in Chromosome 13 affects NALCN (sodium leak channel, non-selective). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AAGCCTCAGGTGAACCCCAGGAGTCCTTGGATGAACTTTAAGTGATCTATAACCAATGCCATATTTTAGCCCATAAAGAAGATTTAGATTGCCCAAGAAGGCTATATACCAGTTTTAATATTTTATTTTATTATATTAGTGACCCCAGTAGAATTTTCACTTGAAAAAATATTACTTTACTAAATAATGTAATAGGCTAGTTTTTTCTTCCAGCTTTCATTTTTTGTGTCCCTGATTTAAGAATCAAACATATATCTGAGTGTGAAACATTTTCAGTGAGGAAAGTAAACCATTTTGTTGCTTTATTAGGAAAACGATTA... | AAGCCTCAGGTGAACCCCAGGAGTCCTTGGATGAACTTTAAGTGATCTATAACCAATGCCATATTTTAGCCCATAAAGAAGATTTAGATTGCCCAAGAAGGCTATATACCAGTTTTAATATTTTATTTTATTATATTAGTGACCCCAGTAGAATTTTCACTTGAAAAAATATTACTTTACTAAATAATGTAATAGGCTAGTTTTTTCTTCCAGCTTTCATTTTTTGTGTCCCTGATTTAAGAATCAAACATATATCTGAGTGTGAAACATTTTCAGTGAGGAAAGTAAACCATTTTGTTGCTTTATTAGGAAAACGATTA... |
Task1_train_19335 | A variant found in Chromosome 13 affects NALCN (sodium leak channel, non-selective). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AGATTGACTCCTTGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAG... | AGATTGACTCCTTGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAG... |
Task1_train_19336 | This genomic variant is located on Chromosome 13, within the NALCN (sodium leak channel, non-selective) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TGACTCCTTGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGT... | TGACTCCTTGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGT... |
Task1_train_19337 | Assess the clinical impact of this variant on gene NALCN (sodium leak channel, non-selective), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGTTTGGCATG... | TGTTGATGAGGAACATCTGAGTCCCCATCTCCTCCCGTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGTTTGGCATG... |
Task1_train_19338 | Given this variant in gene NALCN (sodium leak channel, non-selective) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | ACCAGGTCCTCAGCTATAGCATTTTTCTTAATGAAGGTTTTTCACAATTCTCTGTATGATTACCACTGCTGAATATCTAGACGCATTACCTCTGAATTACCAATTTATTCCTCTTGATTAAGTACAATTTTGCATCAAAATGATTCTGTACAACTTTGTTCCAAGTCTCTTCACATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATG... | ACCAGGTCCTCAGCTATAGCATTTTTCTTAATGAAGGTTTTTCACAATTCTCTGTATGATTACCACTGCTGAATATCTAGACGCATTACCTCTGAATTACCAATTTATTCCTCTTGATTAAGTACAATTTTGCATCAAAATGATTCTGTACAACTTTGTTCCAAGTCTCTTCACATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATG... |
Task1_train_19339 | An alteration has been detected in NALCN (sodium leak channel, non-selective) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TCACATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATGTGAGTTAAGGGCTGAGATCATAGTTCCATATTCCATTTAGGTCTCAAAGTCATAACTGAAAACATGTCCTTCTAGAGGCTGCCACCTCGGAATGGACCGGGAACTTTCTTATCTCTCATAGTTTGCAAAAAGAGAGGAGAGAGGAGATGAGAACTTGCTATGGTTGATTT... | TCACATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATGTGAGTTAAGGGCTGAGATCATAGTTCCATATTCCATTTAGGTCTCAAAGTCATAACTGAAAACATGTCCTTCTAGAGGCTGCCACCTCGGAATGGACCGGGAACTTTCTTATCTCTCATAGTTTGCAAAAAGAGAGGAGAGAGGAGATGAGAACTTGCTATGGTTGATTT... |
Task1_train_19340 | The variant affects gene NALCN (sodium leak channel, non-selective), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | ATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATGTGAGTTAAGGGCTGAGATCATAGTTCCATATTCCATTTAGGTCTCAAAGTCATAACTGAAAACATGTCCTTCTAGAGGCTGCCACCTCGGAATGGACCGGGAACTTTCTTATCTCTCATAGTTTGCAAAAAGAGAGGAGAGAGGAGATGAGAACTTGCTATGGTTGATTTCTTG... | ATTTCCCTTTCTATTAGAACCATTGCCTGACTTGGTGGTGCTTCCAAACACTATTTTTTCCAGCTGTGATTTTATACGTGAGAGTTACTCCATAAACATACTATGGTTTTAAAGGAATCTTAGGTCATCTCCAGGAACACTGCATGTGAGTTAAGGGCTGAGATCATAGTTCCATATTCCATTTAGGTCTCAAAGTCATAACTGAAAACATGTCCTTCTAGAGGCTGCCACCTCGGAATGGACCGGGAACTTTCTTATCTCTCATAGTTTGCAAAAAGAGAGGAGAGAGGAGATGAGAACTTGCTATGGTTGATTTCTTG... |
Task1_train_19341 | A variant affecting Chromosome 13, within the gene NALCN (sodium leak channel, non-selective), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital contractures of the limbs and face, hypotonia, and developmental delay | TGGTCTGAAAACACGTGGAAACAAAATCTCTACCTTTTTGGAGTTGACATTCTTTGGGGTGGTGCAACAGCAAACAACTAAATTCACTTTTAGTTTTTAGAACATTATATAATTATTAGGAGTTGCATAATATACATATACTGTTTGTGCATGAATTAGAAATTCAATTATTAAATTTATTTCTGTGAGAGACTAATAATTAAATGACCATTATAAATGTGAAATAAACTCAGAATTAATTTAGTTACTTTGTCAGTAAAATAACATAGCCATGAGTTACTCATAGATGTTTTCCTTTCACACTCTTACAAGTTTAAATT... | TGGTCTGAAAACACGTGGAAACAAAATCTCTACCTTTTTGGAGTTGACATTCTTTGGGGTGGTGCAACAGCAAACAACTAAATTCACTTTTAGTTTTTAGAACATTATATAATTATTAGGAGTTGCATAATATACATATACTGTTTGTGCATGAATTAGAAATTCAATTATTAAATTTATTTCTGTGAGAGACTAATAATTAAATGACCATTATAAATGTGAAATAAACTCAGAATTAATTTAGTTACTTTGTCAGTAAAATAACATAGCCATGAGTTACTCATAGATGTTTTCCTTTCACACTCTTACAAGTTTAAATT... |
Task1_train_19342 | The gene FGF14 (fibroblast growth factor 14) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spinocerebellar ataxia 27A | TGAAATTAATTTTCCTCTATCAAGTAAACAATGTGATAATCTCTGTCGTTATAGTACCTACCCCCTTAACTGTTTTTAGAGTACTTCTGCTAATTTTTTGAAAACATAAAAAGTATTATTTCTCTCTTTCTCATATATATATATGTATATATACACACAAAACACTCATATACACATAACAAATACATGAGTGAAATACCAAGTATCATTCTATACCACATCATTGTTGTCTCAGATATTTTCTATGAGATATGCAAAATAACTGGTTCCCAAATTTTACCTCGGTTAAATGACATAACAGCCCTTTTGGGTTTTGTTAC... | TGAAATTAATTTTCCTCTATCAAGTAAACAATGTGATAATCTCTGTCGTTATAGTACCTACCCCCTTAACTGTTTTTAGAGTACTTCTGCTAATTTTTTGAAAACATAAAAAGTATTATTTCTCTCTTTCTCATATATATATATGTATATATACACACAAAACACTCATATACACATAACAAATACATGAGTGAAATACCAAGTATCATTCTATACCACATCATTGTTGTCTCAGATATTTTCTATGAGATATGCAAAATAACTGGTTCCCAAATTTTACCTCGGTTAAATGACATAACAGCCCTTTTGGGTTTTGTTAC... |
Task1_train_19343 | This variant affects gene TPP2 (tripeptidyl peptidase 2) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Immunodeficiency 78 with autoimmunity and developmental delay | TGACATTTATTTTCTCTCTCTAAATATACCTGACACTGTGGCCTGTCACACATGCCCAGATATGTATATACACACAGACATTTCTGTACACTTACAAGGAAAAAATAAATGCTGCCTATGGGAAAATGGCTCTGCTGGGTGTTTTCCCCCATTGATTCTTCATAGTAGTATCTGTGTCACTATTTGTAATGAGTGCAGTTAGTACATAGTGTTATACTATTGGATTTAACCAGTGGTCGTCTTAAAAATGCCCATGTATGTTTAGCTTTCACCATCCTAAGCAAACTTCAATGGCTTTCCATTTAGTGCTGACGGGGCCC... | TGACATTTATTTTCTCTCTCTAAATATACCTGACACTGTGGCCTGTCACACATGCCCAGATATGTATATACACACAGACATTTCTGTACACTTACAAGGAAAAAATAAATGCTGCCTATGGGAAAATGGCTCTGCTGGGTGTTTTCCCCCATTGATTCTTCATAGTAGTATCTGTGTCACTATTTGTAATGAGTGCAGTTAGTACATAGTGTTATACTATTGGATTTAACCAGTGGTCGTCTTAAAAATGCCCATGTATGTTTAGCTTTCACCATCCTAAGCAAACTTCAATGGCTTTCCATTTAGTGCTGACGGGGCCC... |
Task1_train_19344 | A mutation on Chromosome 13 affecting BIVM-ERCC5, ERCC5 (BIVM-ERCC5 readthrough| ERCC excision repair 5, endonuclease) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Xeroderma pigmentosum, group G | TCTAGCCTGGGCGACAGAGTGAGACCCTGTCAAAAAAATAAAAAATAAAAAAATAAAAAAAATCAATTTCCCGTATACTTCTGTTATAAAGAAGTCTTTAAAAAATTGCCTGCTCCCTTAAGTCAGCCTTTTCACTGAGTTTAAATTTCGTTCCAATTTGAACAAATATGGATGCTAATACTATCCTTTATAGTTACTAGTGCTAAGTGCGTTGCATGTAACACCTTGAATACTTACTGAAGTCTGCAAGGTTGGTTTTATGCCCTGATTACTGATGGAGACACAAATTCTGAACAACTGTGACTTCAGGGATGCTAAAC... | TCTAGCCTGGGCGACAGAGTGAGACCCTGTCAAAAAAATAAAAAATAAAAAAATAAAAAAAATCAATTTCCCGTATACTTCTGTTATAAAGAAGTCTTTAAAAAATTGCCTGCTCCCTTAAGTCAGCCTTTTCACTGAGTTTAAATTTCGTTCCAATTTGAACAAATATGGATGCTAATACTATCCTTTATAGTTACTAGTGCTAAGTGCGTTGCATGTAACACCTTGAATACTTACTGAAGTCTGCAAGGTTGGTTTTATGCCCTGATTACTGATGGAGACACAAATTCTGAACAACTGTGACTTCAGGGATGCTAAAC... |
Task1_train_19345 | Here is a genetic alteration in BIVM-ERCC5, ERCC5 (BIVM-ERCC5 readthrough| ERCC excision repair 5, endonuclease) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Xeroderma pigmentosum group G/Cockayne syndrome | GATTACAAGTGTGAGCTACCGCACTCGGCCTCAATATATTTTTTAAATAGGAATGTATACAAGGAGGATGTCTTCATCTAGACTGAGGAGGGGACCCCTGGACTGAGACCTTAGAGTAGGAGAGAACTAGGCGGAGAGAGGGAGAAACTGTTTCAGGCAGAGGAAGCAGCATGTGAGAAGAACCTGGAGGCAGGAAGGAGCTTAGTGATTTCTGGGTTTGAGGAAAGCCCAGTAGCAGGAAGTGAGCAGAGGCCAGATCATTCAAGGCTTCCTAGACCAGGAGAAGAAGTTTTAGATAGTATCTTGAAGGCAGTGGGAAG... | GATTACAAGTGTGAGCTACCGCACTCGGCCTCAATATATTTTTTAAATAGGAATGTATACAAGGAGGATGTCTTCATCTAGACTGAGGAGGGGACCCCTGGACTGAGACCTTAGAGTAGGAGAGAACTAGGCGGAGAGAGGGAGAAACTGTTTCAGGCAGAGGAAGCAGCATGTGAGAAGAACCTGGAGGCAGGAAGGAGCTTAGTGATTTCTGGGTTTGAGGAAAGCCCAGTAGCAGGAAGTGAGCAGAGGCCAGATCATTCAAGGCTTCCTAGACCAGGAGAAGAAGTTTTAGATAGTATCTTGAAGGCAGTGGGAAG... |
Task1_train_19346 | This alteration in BIVM-ERCC5, ERCC5 (BIVM-ERCC5 readthrough| ERCC excision repair 5, endonuclease) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Xeroderma pigmentosum, group G | CTAAAGATATTACAGAGTCTTGGTTAGACATCCAGTGGAGTACTTCCTAAGGAGAAAGAGCTTATTGGTAATTTCAGTCAGACTAAATGCAGGCTTTTTGTAAACAAAACTCATTTGGATTATTAATATAAATCTATAAATGAAAAAACATTTTATAGGAGGAGTTGGAAACTCTGGAGAGCAACCTCTTAGCACAGCAGAATTCACTGAAAGCTCAAAAACAGCAGCAAGAACGGATCGCTGCTACTGTCACCGGACAGATGTTCCTGGAAAGCCAGGTGGGTGCAGGCAGCTTGGGTTTCCTTTACCACCTTCTTCAG... | CTAAAGATATTACAGAGTCTTGGTTAGACATCCAGTGGAGTACTTCCTAAGGAGAAAGAGCTTATTGGTAATTTCAGTCAGACTAAATGCAGGCTTTTTGTAAACAAAACTCATTTGGATTATTAATATAAATCTATAAATGAAAAAACATTTTATAGGAGGAGTTGGAAACTCTGGAGAGCAACCTCTTAGCACAGCAGAATTCACTGAAAGCTCAAAAACAGCAGCAAGAACGGATCGCTGCTACTGTCACCGGACAGATGTTCCTGGAAAGCCAGGTGGGTGCAGGCAGCTTGGGTTTCCTTTACCACCTTCTTCAG... |
Task1_train_19347 | This sequence change occurs on Chromosome 13, altering BIVM-ERCC5, ERCC5 (BIVM-ERCC5 readthrough| ERCC excision repair 5, endonuclease). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Xeroderma pigmentosum, group G | GTGGCGAGGGCCTCCCCTAGGCCTGGCACGGCTTGAGTCACACTGGTCAGCCATGGCCGCCCTGCTCAAGAGGAGGCCACAGGGACCCCCTTCGTGATGGGAGGAGGGTCCAAGAGTGTGTCGCTGTCTTTATCCGGCCGATTTAGGCTTAGAATGGAAAACATTGAAAAATGAATAAAATATAAAGAAGAAAATGAATGGCTGTGTGCTCACGTAGAATATTGCCTAGCACACAGCGAAATAATAGTTGTTAGTGTTATTTATTTTAAGTATCTGTTTACTTTTCTCATATATGTGTTTTTTCCAAAACTGGAATCATA... | GTGGCGAGGGCCTCCCCTAGGCCTGGCACGGCTTGAGTCACACTGGTCAGCCATGGCCGCCCTGCTCAAGAGGAGGCCACAGGGACCCCCTTCGTGATGGGAGGAGGGTCCAAGAGTGTGTCGCTGTCTTTATCCGGCCGATTTAGGCTTAGAATGGAAAACATTGAAAAATGAATAAAATATAAAGAAGAAAATGAATGGCTGTGTGCTCACGTAGAATATTGCCTAGCACACAGCGAAATAATAGTTGTTAGTGTTATTTATTTTAAGTATCTGTTTACTTTTCTCATATATGTGTTTTTTCCAAAACTGGAATCATA... |
Task1_train_19348 | This genomic variant is located on Chromosome 13, within the LIG4 (DNA ligase 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; DNA ligase IV deficiency | AAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAA... | AAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAA... |
Task1_train_19349 | A mutation on Chromosome 13 affecting LIG4 (DNA ligase 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTT... | TGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTT... |
Task1_train_19350 | A genetic alteration is present in LIG4 (DNA ligase 4) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DNA ligase IV deficiency | CTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCC... | CTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCC... |
Task1_train_19351 | A variant found in Chromosome 13 affects LIG4 (DNA ligase 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Severe combined immunodeficiency disease | CTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCC... | CTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCC... |
Task1_train_19352 | This gene mutation involves LIG4 (DNA ligase 4) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; DNA ligase IV deficiency | AATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAA... | AATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAA... |
Task1_train_19353 | Assess the clinical impact of this variant on gene LIG4 (DNA ligase 4), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; DNA ligase IV deficiency | ATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAG... | ATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAG... |
Task1_train_19354 | Assess the clinical impact of this variant on gene COL4A1 (collagen type IV alpha 1 chain), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | ATGTTGTGACATTAGCTGAGTCAGGCTTCATTATGTTCTTCTCATACAGACTTGGCAGCGGCTGACGTGCGTGCGCAGCTCCCCTGCCTTCAAGGTGGACGGCGTAGGCTTCCTAAAACACGACACAGAGACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCA... | ATGTTGTGACATTAGCTGAGTCAGGCTTCATTATGTTCTTCTCATACAGACTTGGCAGCGGCTGACGTGCGTGCGCAGCTCCCCTGCCTTCAAGGTGGACGGCGTAGGCTTCCTAAAACACGACACAGAGACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCA... |
Task1_train_19355 | A variant on Chromosome 13 in gene COL4A1 (collagen type IV alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; See cases | TTCTCATACAGACTTGGCAGCGGCTGACGTGCGTGCGCAGCTCCCCTGCCTTCAAGGTGGACGGCGTAGGCTTCCTAAAACACGACACAGAGACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCACACCCAGGCCCTGGCACCTGCCCCAGTGCCCACAGCCC... | TTCTCATACAGACTTGGCAGCGGCTGACGTGCGTGCGCAGCTCCCCTGCCTTCAAGGTGGACGGCGTAGGCTTCCTAAAACACGACACAGAGACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCACACCCAGGCCCTGGCACCTGCCCCAGTGCCCACAGCCC... |
Task1_train_19356 | An alteration has been detected in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | GATCTGACCAGGATCACATAGCTTCAAGGCGGAGCAGAGGCAAGGACGGGGTCTCCAGACCTCCAGATCAGAGCCACCGTCCTGAGAACTCAGAGGAGGTGCTGGAAGACACTGTTCTCTAGAACGTCACTATTTTCGTTTGCTCCTGATTTAGACAAATTATGGGCAATCACTGTTTCAGGCCTTTTGACACCCGGACAAGGGTTGGTGGTGACAACAGCTTTCCTGTGGGTCCTCAATGCAACTGTGGGCTTTCTCTGACACACAGAGATTCCACTCAGTATTTCTTATGATTATGGAGTGGCGAATCCAATCTACCT... | GATCTGACCAGGATCACATAGCTTCAAGGCGGAGCAGAGGCAAGGACGGGGTCTCCAGACCTCCAGATCAGAGCCACCGTCCTGAGAACTCAGAGGAGGTGCTGGAAGACACTGTTCTCTAGAACGTCACTATTTTCGTTTGCTCCTGATTTAGACAAATTATGGGCAATCACTGTTTCAGGCCTTTTGACACCCGGACAAGGGTTGGTGGTGACAACAGCTTTCCTGTGGGTCCTCAATGCAACTGTGGGCTTTCTCTGACACACAGAGATTCCACTCAGTATTTCTTATGATTATGGAGTGGCGAATCCAATCTACCT... |
Task1_train_19357 | A sequence alteration has been identified in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | GATCTGACCAGGATCACATAGCTTCAAGGCGGAGCAGAGGCAAGGACGGGGTCTCCAGACCTCCAGATCAGAGCCACCGTCCTGAGAACTCAGAGGAGGTGCTGGAAGACACTGTTCTCTAGAACGTCACTATTTTCGTTTGCTCCTGATTTAGACAAATTATGGGCAATCACTGTTTCAGGCCTTTTGACACCCGGACAAGGGTTGGTGGTGACAACAGCTTTCCTGTGGGTCCTCAATGCAACTGTGGGCTTTCTCTGACACACAGAGATTCCACTCAGTATTTCTTATGATTATGGAGTGGCGAATCCAATCTACCT... | GATCTGACCAGGATCACATAGCTTCAAGGCGGAGCAGAGGCAAGGACGGGGTCTCCAGACCTCCAGATCAGAGCCACCGTCCTGAGAACTCAGAGGAGGTGCTGGAAGACACTGTTCTCTAGAACGTCACTATTTTCGTTTGCTCCTGATTTAGACAAATTATGGGCAATCACTGTTTCAGGCCTTTTGACACCCGGACAAGGGTTGGTGGTGACAACAGCTTTCCTGTGGGTCCTCAATGCAACTGTGGGCTTTCTCTGACACACAGAGATTCCACTCAGTATTTCTTATGATTATGGAGTGGCGAATCCAATCTACCT... |
Task1_train_19358 | This mutation occurs in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTCATAGGGGCAGGGATGATTCAGAAAACAATGTCTTAAAAGGCTCCTTGGGGAAGCTGTTACTTTTTAAAAAGAAAGATTGAGCAACA... | ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTCATAGGGGCAGGGATGATTCAGAAAACAATGTCTTAAAAGGCTCCTTGGGGAAGCTGTTACTTTTTAAAAAGAAAGATTGAGCAACA... |
Task1_train_19359 | The gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTCATAGGGGCAGGGATGATTCAGAAAACAATGTCTTAAAAGGCTCCTTGGGGAAGCTGTTACTTTTTAAAAAGAAAGATTGAGCAACACTGTTCCAACGCTTGCTGAAGAATCGAGTGGCATCACCTTGCTCACAGGAGGAAAGGCAACCACCACAGTGAGTCAGGCAAAATATAAATTATCTCTGCAAGCCTGGCATTATCTCACCATGGTTTTGCACCACAATTTTA... | AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTCATAGGGGCAGGGATGATTCAGAAAACAATGTCTTAAAAGGCTCCTTGGGGAAGCTGTTACTTTTTAAAAAGAAAGATTGAGCAACACTGTTCCAACGCTTGCTGAAGAATCGAGTGGCATCACCTTGCTCACAGGAGGAAAGGCAACCACCACAGTGAGTCAGGCAAAATATAAATTATCTCTGCAAGCCTGGCATTATCTCACCATGGTTTTGCACCACAATTTTA... |
Task1_train_19360 | A mutation in COL4A1 (collagen type IV alpha 1 chain), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cerebral palsy | AACAACCTCATCTTAAGGTGTTTCTTCCTCCATAGCAGCCCAAAGCCTGCGTATGGAAATGGAGCAGTAAGGGACCTCGCAGGCAAGGCCTGCTTCTGTCCCCTCTCTAACTGTGCCACGTGCCAAACTGTGCCCAGGTCTGCTGGGCTGAGCTCTTTGTTCAATTAGTCAGTGGCCTCAGCCTTTTGCATCATAGCCTTCACCGGACACTCGAGTGTGCCTTCTCCTAAGGAAGCAGATCAAGTTCATCCCATGCCTTTGGGCCAATGCTGGCATTATTTTCATTTCTACTTCCCTTGTCCTTTGCTGAAATAGAATTT... | AACAACCTCATCTTAAGGTGTTTCTTCCTCCATAGCAGCCCAAAGCCTGCGTATGGAAATGGAGCAGTAAGGGACCTCGCAGGCAAGGCCTGCTTCTGTCCCCTCTCTAACTGTGCCACGTGCCAAACTGTGCCCAGGTCTGCTGGGCTGAGCTCTTTGTTCAATTAGTCAGTGGCCTCAGCCTTTTGCATCATAGCCTTCACCGGACACTCGAGTGTGCCTTCTCCTAAGGAAGCAGATCAAGTTCATCCCATGCCTTTGGGCCAATGCTGGCATTATTTTCATTTCTACTTCCCTTGTCCTTTGCTGAAATAGAATTT... |
Task1_train_19361 | Consider a variant on Chromosome 13 in gene COL4A1 (collagen type IV alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCC... | CTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCC... |
Task1_train_19362 | The following genetic variant occurs in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCCAGATTGCTACATGCCACC... | AGTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCCAGATTGCTACATGCCACC... |
Task1_train_19363 | This genomic variant is located on Chromosome 13, within the COL4A1 (collagen type IV alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCCAGATTGCTACATGCCACCC... | GTGATCCTCCCACCTCAGCCTCCCAAAAAGCCGGCATTACATAGGTGTGACCCAGTGAGCCTGGCTAGCTTATTCTTAAGTATCATTAAATTTTCTTTGATGCTTTCAACTTTAAAATGTTTTCATTCTCCTTTACTTCCCACCCACTCCTTATCAGTAGCTCTTCAAATAGGAGATGTTTCACTCAAATAAGCAGAAGACTATGTTAGGGTTTCAGGAAATAACAGAGAATTGTACAGACAGTGCCAATCAGGCAGCGCTCCTGGGGGCATGGATGGAGAGCACCGATTTTTACCATTCCAGATTGCTACATGCCACCC... |
Task1_train_19364 | Consider a variant on Chromosome 13 in gene COL4A1 (collagen type IV alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATGCAAAGAAAATTAAGAAATGCTAAGGAACGAGTATTTTCCTTTATACTGTGGCAATATTCGTGTATTTTAAAATAGGGGCTCATTTTCTTTCCATTTCAACAAGTCGTTCCTTTCTCAAGTCGTGGACAGCAACATGTAACAAGTTGTTTTATTTCTTACGTAGATTTGTTTCTTAGCCTTATTTTAAAAGTGTCAAACCAAAATAACATGAACAAATATATATGTATATAAACATATATACAAACACATATTTATACATAAGTATGTATACAGAGACAGACAGACACTGACTGGCACCAGGAATGGGGTGTATTTC... | TATGCAAAGAAAATTAAGAAATGCTAAGGAACGAGTATTTTCCTTTATACTGTGGCAATATTCGTGTATTTTAAAATAGGGGCTCATTTTCTTTCCATTTCAACAAGTCGTTCCTTTCTCAAGTCGTGGACAGCAACATGTAACAAGTTGTTTTATTTCTTACGTAGATTTGTTTCTTAGCCTTATTTTAAAAGTGTCAAACCAAAATAACATGAACAAATATATATGTATATAAACATATATACAAACACATATTTATACATAAGTATGTATACAGAGACAGACAGACACTGACTGGCACCAGGAATGGGGTGTATTTC... |
Task1_train_19365 | Gene COL4A1 (collagen type IV alpha 1 chain), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACATGACTGTTGCTACTCCTTATAGCCAGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTA... | ACATGACTGTTGCTACTCCTTATAGCCAGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTA... |
Task1_train_19366 | This mutation is located in gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGAC... | AGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGAC... |
Task1_train_19367 | This variant lies on Chromosome 13 and affects the gene COL4A1 (collagen type IV alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGACAGACAGAT... | ATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGACAGACAGAT... |
Task1_train_19368 | Here’s a variant in COL4A1 (collagen type IV alpha 1 chain) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGACAGACAGATGGAGACAGATAGAGGAAACAGAGAGACAGACACAGAGAATAAAGCTCTGCTAATCCAGCTATTTGAATGAGCGAGCCACGTAAACAC... | CTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATACTCTCTCTTTCTCCTAACGTGTGTTAGAGAGAGACAGAGAGACAGACAGATGGAGACAGATAGAGGAAACAGAGAGACAGACACAGAGAATAAAGCTCTGCTAATCCAGCTATTTGAATGAGCGAGCCACGTAAACAC... |
Task1_train_19369 | This is a variant in COL4A1 (collagen type IV alpha 1 chain), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GAAAGTCAGAATTTCAATATTCTGATGACCTTCTAGGCATAAAAATGACAGGGGTCTCGCCTCTCTGCTGGATTTTTACAAAATTAGTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATT... | GAAAGTCAGAATTTCAATATTCTGATGACCTTCTAGGCATAAAAATGACAGGGGTCTCGCCTCTCTGCTGGATTTTTACAAAATTAGTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATT... |
Task1_train_19370 | This is a variant in COL4A1 (collagen type IV alpha 1 chain), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATTCTGATGACCTTCTAGGCATAAAAATGACAGGGGTCTCGCCTCTCTGCTGGATTTTTACAAAATTAGTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGG... | TATTCTGATGACCTTCTAGGCATAAAAATGACAGGGGTCTCGCCTCTCTGCTGGATTTTTACAAAATTAGTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGG... |
Task1_train_19371 | Assess the clinical impact of this variant on gene COL4A1 (collagen type IV alpha 1 chain), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Porencephaly | CCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAGATATTAGTTAATTGCACCCTTGTAATAAAATGATATTCCTACAGTTATAAGATACCCTTGACTGAATGTTCCTAATTTAGTACTTTTTC... | CCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAGATATTAGTTAATTGCACCCTTGTAATAAAATGATATTCCTACAGTTATAAGATACCCTTGACTGAATGTTCCTAATTTAGTACTTTTTC... |
Task1_train_19372 | Given this variant in gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | AAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAGATATTAGTTAATTGCACCCTTGTAATAAAATGATATTCCTACAGTTATAAGATACCCTTGACTGAATGTTCCTAATTTAGTACTTTTTCCTAAGTACCTTTCAGCTCAGAACCACCACGGCATTTA... | AAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAGATATTAGTTAATTGCACCCTTGTAATAAAATGATATTCCTACAGTTATAAGATACCCTTGACTGAATGTTCCTAATTTAGTACTTTTTCCTAAGTACCTTTCAGCTCAGAACCACCACGGCATTTA... |
Task1_train_19373 | This alteration in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | TAGAATATAAAGTTATGGAATGAAAAAAATGAAAAGAAAGCCAGCACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCT... | TAGAATATAAAGTTATGGAATGAAAAAAATGAAAAGAAAGCCAGCACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCT... |
Task1_train_19374 | Here is a variant affecting COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | AAAGTTATGGAATGAAAAAAATGAAAAGAAAGCCAGCACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCTTTGTTTTG... | AAAGTTATGGAATGAAAAAAATGAAAAGAAAGCCAGCACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCTTTGTTTTG... |
Task1_train_19375 | A genetic alteration is present in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | ACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCTTTGTTTTGTCATAGCAACCACAAGGGAAATGGAAAGTGTTCTAAC... | ACCAATAGCTGTGGATGCTCTTGGTGGTCCTCCCAGTGTCCCCCCAAGTCAGGGGTAACCTGCTTCAAATGGTGTGTTTATCTCTCTCTTGCATTAAATACAAATATTACTGTGTATGTGATTGTCATCATCACACCTGCACTTTTGTCCAAGTTATGGCCAAGTTAAAGCCCACCAGTGACAGGAGCAGACTCAGGGGCCAACCAATATTTCCAACCATTTCCCCTCAAATGGGGAAATGCTGGGCAAAGAAAAGAGTTTTGTTTTGCTTTGCTTTGTTTTGTCATAGCAACCACAAGGGAAATGGAAAGTGTTCTAAC... |
Task1_train_19376 | The gene COL4A1 (collagen type IV alpha 1 chain) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CCTGGCCACTGTTCTCTATGTGCCCGGGCTGTGTCCCAAAGAGGGCCCTCTACCTGCTTCTCCTTTGACACCAGGGATGCCATCCAATCCTGGGAGGCCTTTGTCACCTTTTTCTCCAGGTAGCCCAGGACTTCCTAAAGAAAAAAACAAAACACCAGAACATCCATAAGTTTGGGCTTTTCTTTGATTTCTTAGATTCCCCAAGTCCAAGAGAAGCCCCCCTCACCTACCTGGATAGCCAACACTCCCGGGAGACCCTTTAAGGCCTGGGGACCCTGGCATTCCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTC... | CCTGGCCACTGTTCTCTATGTGCCCGGGCTGTGTCCCAAAGAGGGCCCTCTACCTGCTTCTCCTTTGACACCAGGGATGCCATCCAATCCTGGGAGGCCTTTGTCACCTTTTTCTCCAGGTAGCCCAGGACTTCCTAAAGAAAAAAACAAAACACCAGAACATCCATAAGTTTGGGCTTTTCTTTGATTTCTTAGATTCCCCAAGTCCAAGAGAAGCCCCCCTCACCTACCTGGATAGCCAACACTCCCGGGAGACCCTTTAAGGCCTGGGGACCCTGGCATTCCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTC... |
Task1_train_19377 | A variant was discovered on Chromosome 13, affecting COL4A1 (collagen type IV alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTGGATAGCCAACACTCCCGGGAGACCCTTTAAGGCCTGGGGACCCTGGCATTCCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTCCAGGGCTTCCTGGGAAACCCGCTATCCCTTGATCTCCCTGCAAGTAAAAGTCAGGCATATTAACTTTACATTTGTCCATGGGCATGCATCTGTAGGCATGTTATAGATAATGGTATACATTTTGGTGCAATGAATATTGCATTGCAAAACTCCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCA... | CTGGATAGCCAACACTCCCGGGAGACCCTTTAAGGCCTGGGGACCCTGGCATTCCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTCCAGGGCTTCCTGGGAAACCCGCTATCCCTTGATCTCCCTGCAAGTAAAAGTCAGGCATATTAACTTTACATTTGTCCATGGGCATGCATCTGTAGGCATGTTATAGATAATGGTATACATTTTGGTGCAATGAATATTGCATTGCAAAACTCCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCA... |
Task1_train_19378 | The following genetic variant occurs in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTCCAGGGCTTCCTGGGAAACCCGCTATCCCTTGATCTCCCTGCAAGTAAAAGTCAGGCATATTAACTTTACATTTGTCCATGGGCATGCATCTGTAGGCATGTTATAGATAATGGTATACATTTTGGTGCAATGAATATTGCATTGCAAAACTCCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCC... | CCTGGGATCCCAATGCTTCCTTTTTCTCCCTTCTCTCCAGGGCTTCCTGGGAAACCCGCTATCCCTTGATCTCCCTGCAAGTAAAAGTCAGGCATATTAACTTTACATTTGTCCATGGGCATGCATCTGTAGGCATGTTATAGATAATGGTATACATTTTGGTGCAATGAATATTGCATTGCAAAACTCCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCC... |
Task1_train_19379 | Gene COL4A1 (collagen type IV alpha 1 chain), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Optic nerve hypoplasia | CCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCCACTGACAGCTGTCTCCCACCTTAGCCTCTCACCAGTCTCTAGATTCTTCCTTGGGGGAGAGGTAGTGAATACAAGGGGAAGGAGAGGCGACTTGTGCTGCCTTATGGGACTCCCTGTGTGTTATGGCTCATTGAGTGTGCTGAGATATTTGCTGAGCATTTCTCAGGCAGCATCTCCACTGAGCTGGG... | CCATTTCCAGATTTCTCATCAAAGAATCAAAGTCCACTTCTGAATGGAGAGGAAAACTTAAGAGCAGTAGAGCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCCACTGACAGCTGTCTCCCACCTTAGCCTCTCACCAGTCTCTAGATTCTTCCTTGGGGGAGAGGTAGTGAATACAAGGGGAAGGAGAGGCGACTTGTGCTGCCTTATGGGACTCCCTGTGTGTTATGGCTCATTGAGTGTGCTGAGATATTTGCTGAGCATTTCTCAGGCAGCATCTCCACTGAGCTGGG... |
Task1_train_19380 | Gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCCACTGACAGCTGTCTCCCACCTTAGCCTCTCACCAGTCTCTAGATTCTTCCTTGGGGGAGAGGTAGTGAATACAAGGGGAAGGAGAGGCGACTTGTGCTGCCTTATGGGACTCCCTGTGTGTTATGGCTCATTGAGTGTGCTGAGATATTTGCTGAGCATTTCTCAGGCAGCATCTCCACTGAGCTGGGAGAAGGGGACCTTTCCACGCAGAGCGCTGGTTACCTTTTCACCTCGCAGCCCTGGGATGCCTATGCCAGGT... | GCCAACCATCTGGTTTCTACCTGCCATTCCTCTTCGTCCTCCATCCTCTCTGTTTTATCCCACTGACAGCTGTCTCCCACCTTAGCCTCTCACCAGTCTCTAGATTCTTCCTTGGGGGAGAGGTAGTGAATACAAGGGGAAGGAGAGGCGACTTGTGCTGCCTTATGGGACTCCCTGTGTGTTATGGCTCATTGAGTGTGCTGAGATATTTGCTGAGCATTTCTCAGGCAGCATCTCCACTGAGCTGGGAGAAGGGGACCTTTCCACGCAGAGCGCTGGTTACCTTTTCACCTCGCAGCCCTGGGATGCCTATGCCAGGT... |
Task1_train_19381 | The gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGATGCTTATATTTTAATTAAAGTGATAACAGCACCTGGTCAAGACTCAAGAGGAGATGGAAAGATGGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATC... | AGATGCTTATATTTTAATTAAAGTGATAACAGCACCTGGTCAAGACTCAAGAGGAGATGGAAAGATGGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATC... |
Task1_train_19382 | Here is a genetic alteration in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TAAAGTGATAACAGCACCTGGTCAAGACTCAAGAGGAGATGGAAAGATGGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTC... | TAAAGTGATAACAGCACCTGGTCAAGACTCAAGAGGAGATGGAAAGATGGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTC... |
Task1_train_19383 | The following genetic variant occurs in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; COL4A1 or COL4A2-related cerebral small vessel disease | CTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCCATTAGATGGTGAGTTTTCTTAGCAATGGCCATTCTGTCAGCCAAATGTCATCCATCCCTGAGCAGGAGACCATTCAGAGCTGGGGATGTGAATTCATGTGAAAGACACACGTGCCTGGATTCTGTCCGTC... | CTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCCATTAGATGGTGAGTTTTCTTAGCAATGGCCATTCTGTCAGCCAAATGTCATCCATCCCTGAGCAGGAGACCATTCAGAGCTGGGGATGTGAATTCATGTGAAAGACACACGTGCCTGGATTCTGTCCGTC... |
Task1_train_19384 | This mutation occurs in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | AGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCCATTAGATGGTGAGTTTTCTTAGCAATGGCCATTCTGTCAGCCAAATGTCATCCATCCCTGAGCAGGAGACCATTCAGAGCTGGGGATGTGAATTCATGTGAAAGACACACGTGCCTGGATTCTGTCCGTCTCAGCTGAAGAGGATCTC... | AGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCCATTAGATGGTGAGTTTTCTTAGCAATGGCCATTCTGTCAGCCAAATGTCATCCATCCCTGAGCAGGAGACCATTCAGAGCTGGGGATGTGAATTCATGTGAAAGACACACGTGCCTGGATTCTGTCCGTCTCAGCTGAAGAGGATCTC... |
Task1_train_19385 | Given a variant located on Chromosome 13 and affecting COL4A1 (collagen type IV alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19386 | Here is a genetic alteration in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19387 | The gene COL4A1 (collagen type IV alpha 1 chain) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19388 | Given this context: Chromosome 13, gene COL4A1 (collagen type IV alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19389 | A variant was discovered on Chromosome 13, affecting COL4A1 (collagen type IV alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19390 | This mutation is located in gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19391 | A change on Chromosome 13 affects gene COL4A1 (collagen type IV alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal arterial tortuosity | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19392 | Given this context: Chromosome 13, gene COL4A1 (collagen type IV alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hemorrhage, intracerebral, susceptibility to | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... | TATTCGCTAATAACTCTACTGCATGTGACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTC... |
Task1_train_19393 | A genetic alteration is present in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCA... | GACTTGGCTTTCAGGTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCA... |
Task1_train_19394 | The variant affects gene COL4A1 (collagen type IV alpha 1 chain), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | CATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTC... | CATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTC... |
Task1_train_19395 | This variant affects gene COL4A1 (collagen type IV alpha 1 chain) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTC... | CATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTC... |
Task1_train_19396 | Assess the clinical impact of this variant on gene COL4A1 (collagen type IV alpha 1 chain), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | ATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTCTTTCTGATTTGCTTGGCC... | ATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAGGAAAGCCCAGCTTCTTTCTGATTTGCTTGGCC... |
Task1_train_19397 | A variant affecting Chromosome 13, within the gene COL4A1 (collagen type IV alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | CCAGGAACGCCTGGTACCCCAATGCTCCCCTTCTCCCCGGGTGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTG... | CCAGGAACGCCTGGTACCCCAATGCTCCCCTTCTCCCCGGGTGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTG... |
Task1_train_19398 | A variant was discovered in gene COL4A1 (collagen type IV alpha 1 chain), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... |
Task1_train_19399 | The gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Abnormal corpus callosum morphology | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... |
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