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_10100 | This mutation is located in gene VARS2 (valyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined oxidative phosphorylation defect type 20 | CTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCA... | CTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCA... |
Task1_train_10101 | This variant affects the gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 20 | GGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTG... | GGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTG... |
Task1_train_10102 | Chromosome 6 houses a mutation in gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Combined oxidative phosphorylation defect type 20 | CTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCA... | CTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCA... |
Task1_train_10103 | Here’s a variant in VARS2 (valyl-tRNA synthetase 2, mitochondrial) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined oxidative phosphorylation defect type 20 | CAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGG... | CAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGG... |
Task1_train_10104 | This variant impacts the gene TNF (tumor necrosis factor) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; TNF receptor binding, altered | TTCTCTCCCTCAAGGACTCAGCTTTCTGAAGCCCCTCCCAGTTCTAGTTCTATCTTTTTCCTGCATCCTGTCTGGAAGTTAGAAGGAAACAGACCACAGACCTGGTCCCCAAAAGAAATGGAGGCAATAGGTTTTGAGGGGCATGGGGACGGGGTTCAGCCTCCAGGGTCCTACACACAAATCAGTCAGTGGCCCAGAAGACCCCCCTCGGAATCGGAGCAGGGAGGATGGGGAGTGTGAGGGGTATCCTTGATGCTTGTGTGTCCCCAACTTTCCAAATCCCCGCCCCCGCGATGGAGAAGAAACCGAGACAGAAGGTG... | TTCTCTCCCTCAAGGACTCAGCTTTCTGAAGCCCCTCCCAGTTCTAGTTCTATCTTTTTCCTGCATCCTGTCTGGAAGTTAGAAGGAAACAGACCACAGACCTGGTCCCCAAAAGAAATGGAGGCAATAGGTTTTGAGGGGCATGGGGACGGGGTTCAGCCTCCAGGGTCCTACACACAAATCAGTCAGTGGCCCAGAAGACCCCCCTCGGAATCGGAGCAGGGAGGATGGGGAGTGTGAGGGGTATCCTTGATGCTTGTGTGTCCCCAACTTTCCAAATCCCCGCCCCCGCGATGGAGAAGAAACCGAGACAGAAGGTG... |
Task1_train_10105 | A variant on Chromosome 6 in gene CSNK2B (casein kinase 2 beta) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCAACAATAAACACCAGCCTCTTTCTGAAACCACTTTCCCACCCCGTAAGACATACCAGTAGGAAAAAAAAATCAGCCTGGCCCTTTAAGTCTTCCGCGATCCCATTTCGGAGTTTCCTCTTCCCAAACAAAAATAGATGGGTCACTCCCTAGAAGATCTCGGGGAGAGTCTCCTATACGTGTTGCTGTGTAGCTTCCGTACCGCAAAATGGCGCCATTCTAATCAGAAGAGTTGACACAATCAAATAGCCACACGGCACGAAGACGCATGCGTGGCGACAACAACAACAAAAACCACAACCCACATTACTTGAGGGCTC... | CCAACAATAAACACCAGCCTCTTTCTGAAACCACTTTCCCACCCCGTAAGACATACCAGTAGGAAAAAAAAATCAGCCTGGCCCTTTAAGTCTTCCGCGATCCCATTTCGGAGTTTCCTCTTCCCAAACAAAAATAGATGGGTCACTCCCTAGAAGATCTCGGGGAGAGTCTCCTATACGTGTTGCTGTGTAGCTTCCGTACCGCAAAATGGCGCCATTCTAATCAGAAGAGTTGACACAATCAAATAGCCACACGGCACGAAGACGCATGCGTGGCGACAACAACAACAAAAACCACAACCCACATTACTTGAGGGCTC... |
Task1_train_10106 | A genetic alteration is present in CSNK2B (casein kinase 2 beta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome | CCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGG... | CCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGG... |
Task1_train_10107 | This variant affects the gene CSNK2B (casein kinase 2 beta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTC... | GGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTC... |
Task1_train_10108 | The gene CSNK2B (casein kinase 2 beta) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAA... | CGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAA... |
Task1_train_10109 | A genetic alteration is present in CSNK2B (casein kinase 2 beta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome | GTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA... | GTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA... |
Task1_train_10110 | Gene CSNK2B (casein kinase 2 beta), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATG... | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATG... |
Task1_train_10111 | This variant affects the gene CSNK2B (casein kinase 2 beta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental disorder | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATG... | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATG... |
Task1_train_10112 | This mutation occurs in CSNK2B (casein kinase 2 beta) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome | CATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCT... | CATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCT... |
Task1_train_10113 | Assess the clinical impact of this variant on gene ABHD16A (abhydrolase domain containing 16A, phospholipase), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spastic paraplegia 86, autosomal recessive | GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTT... | GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTT... |
Task1_train_10114 | A mutation found in ABHD16A (abhydrolase domain containing 16A, phospholipase) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Complex hereditary spastic paraplegia | GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTT... | GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTT... |
Task1_train_10115 | A genetic alteration is present in MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spermatogenic failure 74 | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... |
Task1_train_10116 | A variant on Chromosome 6 in gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Premature ovarian failure 13 | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... |
Task1_train_10117 | A change on Chromosome 6 affects gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spermatogenic failure 74 | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... | AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCA... |
Task1_train_10118 | A variant on Chromosome 6 in gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Premature ovarian failure 13 | GCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTA... | GCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTA... |
Task1_train_10119 | Gene VARS1 (valyl-tRNA synthetase 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | GTTGGAGCTGGAGTGGAACCAGGGGGTGGGTGAGGACCCAGGTCCAAGTGAAGAGACCCCCAAACACCCAGGACAACAAAGTTGGAAAGATGAGCGAGGACCATGGGAGGTCAGTAGCTCAGAGGAGGCGTGAACCTGGCTGGCCTGGCTCCCCACCCATTCCCACCAGCACCCCCACTTCCACCACCACCTCTTGGGTCTTGCCTTTTTCCACCAAGTGGTGAGTCCCCAAGAACAAAGGAACCTCAGAGCCTACGTGTTCCCCATTCAGTGTCCCCACCTAAGCAGGAGAGCACAGTCTCCCAGGCCGGTCACTTCAT... | GTTGGAGCTGGAGTGGAACCAGGGGGTGGGTGAGGACCCAGGTCCAAGTGAAGAGACCCCCAAACACCCAGGACAACAAAGTTGGAAAGATGAGCGAGGACCATGGGAGGTCAGTAGCTCAGAGGAGGCGTGAACCTGGCTGGCCTGGCTCCCCACCCATTCCCACCAGCACCCCCACTTCCACCACCACCTCTTGGGTCTTGCCTTTTTCCACCAAGTGGTGAGTCCCCAAGAACAAAGGAACCTCAGAGCCTACGTGTTCCCCATTCAGTGTCCCCACCTAAGCAGGAGAGCACAGTCTCCCAGGCCGGTCACTTCAT... |
Task1_train_10120 | A mutation on Chromosome 6 affecting VARS1 (valyl-tRNA synthetase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | TGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGCATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTAC... | TGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGCATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTAC... |
Task1_train_10121 | A genetic alteration is present in VARS1 (valyl-tRNA synthetase 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | TGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTC... | TGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTC... |
Task1_train_10122 | A variant on Chromosome 6 in gene VARS1 (valyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | CTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCT... | CTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCT... |
Task1_train_10123 | A variant has been detected on Chromosome 6 in NEU1 (neuraminidase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | ATGGTATCCTACCCCATGTTAGAAATATAAAACAGCGTGGATTTTTTTTTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCA... | ATGGTATCCTACCCCATGTTAGAAATATAAAACAGCGTGGATTTTTTTTTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCA... |
Task1_train_10124 | With a mutation on Chromosome 6 in gene NEU1 (neuraminidase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGC... | TTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGC... |
Task1_train_10125 | This variant affects the gene NEU1 (neuraminidase 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Sialidosis | TTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTG... | TTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTG... |
Task1_train_10126 | An alteration has been detected in NEU1 (neuraminidase 1) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sialidosis type 1 | TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGAT... | TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGAT... |
Task1_train_10127 | A variant was discovered on Chromosome 6, affecting NEU1 (neuraminidase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCT... | CTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCT... |
Task1_train_10128 | This gene mutation involves NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAAT... | GACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAAT... |
Task1_train_10129 | A genomic change on Chromosome 6 affects NEU1 (neuraminidase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTG... | TAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTG... |
Task1_train_10130 | Given this context: Chromosome 6, gene NEU1 (neuraminidase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Sialidosis type 2 | GTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAG... | GTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAG... |
Task1_train_10131 | The gene NEU1 (neuraminidase 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Sialidosis | TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAA... | TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAA... |
Task1_train_10132 | Assess the clinical impact of this variant on gene NEU1 (neuraminidase 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Sialidosis type 2 | TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAA... | TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAA... |
Task1_train_10133 | This sequence variant lies in NEU1 (neuraminidase 1) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Sialidosis type 2 | CAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAG... | CAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAG... |
Task1_train_10134 | This gene mutation involves NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCC... | GAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCC... |
Task1_train_10135 | The gene NEU1 (neuraminidase 1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Sialidosis type 2 | GAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGA... | GAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGA... |
Task1_train_10136 | This mutation is located in gene NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGAT... | GGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGAT... |
Task1_train_10137 | This mutation occurs in NEU1 (neuraminidase 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | ACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATC... | ACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATC... |
Task1_train_10138 | A variant found in Chromosome 6 affects SLC44A4 (solute carrier family 44 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hearing loss, autosomal dominant 72 | GGCATGAGCCACTGCACCTCACTGTCATTTACATTCTAAAGATGAGGAAACAAGGTTCAGAGAGGTTGCATAGTTGGGTCAAGACCATAGGGCTGGAAAGTGCTAGAATTTATATTCAGATCTACTTGACTTTGAAGTATTCACTTGAGATACTCCTTACTGTACTTAAATTGATAACTGGATATCTCATCTTATGCTATAAATTGTCTAATTTTTTTTTTTTGAGATGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACCGTAAACTCCGCCTCTGGGCTCAAGCAATTCTCCTACTTCA... | GGCATGAGCCACTGCACCTCACTGTCATTTACATTCTAAAGATGAGGAAACAAGGTTCAGAGAGGTTGCATAGTTGGGTCAAGACCATAGGGCTGGAAAGTGCTAGAATTTATATTCAGATCTACTTGACTTTGAAGTATTCACTTGAGATACTCCTTACTGTACTTAAATTGATAACTGGATATCTCATCTTATGCTATAAATTGTCTAATTTTTTTTTTTTGAGATGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACCGTAAACTCCGCCTCTGGGCTCAAGCAATTCTCCTACTTCA... |
Task1_train_10139 | This mutation is located in gene C2 (complement C2) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; C2 deficiency, type II | CAGTAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGAGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG... | CAGTAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGAGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG... |
Task1_train_10140 | Assess the clinical impact of this variant on gene LOC126859653, SKIC2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:31929542-31930741| SKI2 subunit of superkiller complex), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Trichohepatoenteric syndrome 2 | TATCCTCTTTCCTTACCTAATGCCTCTCATCTTGCCCTTGTTTCAGCTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAGTTGTTTCTGTCATCCCCAGCCTGGCTGCCTCTGCATGGTGTGGAGCACTCAGCCCGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACAGAGGAAGAAAGAAGACCCAAAAGTTACTATTTTTCTCTCCAGAAAATGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCC... | TATCCTCTTTCCTTACCTAATGCCTCTCATCTTGCCCTTGTTTCAGCTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAGTTGTTTCTGTCATCCCCAGCCTGGCTGCCTCTGCATGGTGTGGAGCACTCAGCCCGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACAGAGGAAGAAAGAAGACCCAAAAGTTACTATTTTTCTCTCCAGAAAATGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCC... |
Task1_train_10141 | The following genetic variant occurs in SKIC2 (SKI2 subunit of superkiller complex) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Trichohepatoenteric syndrome 2 | ATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATG... | ATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATG... |
Task1_train_10142 | This mutation is located in gene CYP21A2, LOC106780800, LOC110631417 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| CYP21A2 5' regulatory region) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGGAAGGCTTCCTGGAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCA... | GGGAAGGCTTCCTGGAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCA... |
Task1_train_10143 | A genomic change on Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCC... | GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCC... |
Task1_train_10144 | The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCC... | GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCC... |
Task1_train_10145 | The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAG... | CCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAG... |
Task1_train_10146 | This genomic variant is located on Chromosome 6, within the CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | GGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAAC... | GGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAAC... |
Task1_train_10147 | This sequence variant lies in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | TGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTA... | TGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTA... |
Task1_train_10148 | A variant was discovered on Chromosome 6, affecting CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTC... | GAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTC... |
Task1_train_10149 | The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital adrenal hyperplasia | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... |
Task1_train_10150 | This mutation is located in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... |
Task1_train_10151 | A genomic change on Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... | TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAG... |
Task1_train_10152 | A variant found in Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCT... | GGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCT... |
Task1_train_10153 | Consider a variant on Chromosome 6 in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Determine its clinical classification and disease relevance. | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | CCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAG... | CCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAG... |
Task1_train_10154 | This alteration occurs within gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGC... | TGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGC... |
Task1_train_10155 | This sequence variant lies in CYP21A2, LOC106780800, TNXB (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| tenascin XB) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACT... | GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACT... |
Task1_train_10156 | A mutation found in CYP21A2, LOC106780800, TNXB (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| tenascin XB) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; CYP21A2-related disorder | GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACT... | GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACT... |
Task1_train_10157 | Gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTT... | CGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTT... |
Task1_train_10158 | The following genetic variant occurs in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAA... | CGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAA... |
Task1_train_10159 | This is a variant in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | GAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACC... | GAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACC... |
Task1_train_10160 | A mutation on Chromosome 6 affecting CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTC... | GGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTC... |
Task1_train_10161 | This variant affects gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCAT... | GCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCAT... |
Task1_train_10162 | Here is a mutation in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; CYP21A2-related disorder | CTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATC... | CTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATC... |
Task1_train_10163 | Mutation context: Chromosome 6, Gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCAT... | GGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCAT... |
Task1_train_10164 | A variant affecting Chromosome 6, within the gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCC... | CTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCC... |
Task1_train_10165 | A variant on Chromosome 6 in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCC... | TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCC... |
Task1_train_10166 | A change on Chromosome 6 affects gene LOC106780803, TNXB (tenascin XB recombination region| tenascin XB). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome due to tenascin-X deficiency | TTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAG... | TTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAG... |
Task1_train_10167 | A variant has been detected on Chromosome 6 in TNXB (tenascin XB). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Vesicoureteral reflux 8 | AGAAGAGATAGAGGCATAAAGGGCTGCTGGCTTTGCTGCTGCTGCCCACAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACC... | AGAAGAGATAGAGGCATAAAGGGCTGCTGGCTTTGCTGCTGCTGCCCACAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACC... |
Task1_train_10168 | Mutation context: Chromosome 6, Gene HLA-DRB1 (major histocompatibility complex, class II, DR beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pulmonary artery atresia | CCTGGAAGAGTTTTTTGATTCTTCTGTGTCTCAACTTTGTCACCTACAATGAAGGATAATTATACTAATTTACCTCTTGGGGTTATATGAGGATTAATGCACGTAAAATATATAAAACAATGACTGAAGATAGCCTTCAGTTTATGAGGTCAGAAAGCTTCTCACTCCATTCCACTGTGAGGGCACTCATCACACTTGAGTGCTCCACTTGGCACCTATTTATCATCCTTGTACACCTTGACAGAAAAATATGATTTAAAGCAATATGCATAGATAAAGGGACAGAGTTGGGTACATGAGGAAACCAAGTATGAATTTTA... | CCTGGAAGAGTTTTTTGATTCTTCTGTGTCTCAACTTTGTCACCTACAATGAAGGATAATTATACTAATTTACCTCTTGGGGTTATATGAGGATTAATGCACGTAAAATATATAAAACAATGACTGAAGATAGCCTTCAGTTTATGAGGTCAGAAAGCTTCTCACTCCATTCCACTGTGAGGGCACTCATCACACTTGAGTGCTCCACTTGGCACCTATTTATCATCCTTGTACACCTTGACAGAAAAATATGATTTAAAGCAATATGCATAGATAAAGGGACAGAGTTGGGTACATGAGGAAACCAAGTATGAATTTTA... |
Task1_train_10169 | A genomic change on Chromosome 6 affects PSMB8 (proteasome 20S subunit beta 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Proteasome-associated autoinflammatory syndrome 1 | CTCCAAATTATGTTGGGCGCACCTTCAGCCTATGAGGGAAATGCCCCGTACTGAGCTTTGGTTCTTGTTCTATTTTAACACTGTTTAGAACAGTAATTAGGTTTTTAAATATCCTTCCTGACCCAGAGCCTTCCTATGCAACAGAAAGATTCGTTTATTCCAGAAAGGACTCTTCAGATTGAAACCACCTCCCAAACTAAAAACAAACAAACAAACAAATTCCCCAAAGGAAGGGTCGCTTGGATTCCAGATCACCATTTTGAAATGTTACCTGTGTGACTACCAAGGAGTCACTTAAAGTTTAAAATAGTGGTGGTGGG... | CTCCAAATTATGTTGGGCGCACCTTCAGCCTATGAGGGAAATGCCCCGTACTGAGCTTTGGTTCTTGTTCTATTTTAACACTGTTTAGAACAGTAATTAGGTTTTTAAATATCCTTCCTGACCCAGAGCCTTCCTATGCAACAGAAAGATTCGTTTATTCCAGAAAGGACTCTTCAGATTGAAACCACCTCCCAAACTAAAAACAAACAAACAAACAAATTCCCCAAAGGAAGGGTCGCTTGGATTCCAGATCACCATTTTGAAATGTTACCTGTGTGACTACCAAGGAGTCACTTAAAGTTTAAAATAGTGGTGGTGGG... |
Task1_train_10170 | Gene PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Proteasome-associated autoinflammatory syndrome 1 | ATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTC... | ATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTC... |
Task1_train_10171 | A sequence alteration has been identified in PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Proteasome-associated autoinflammatory syndrome 1 | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... |
Task1_train_10172 | The gene PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Proteosome-associated autoinflammatory syndrome | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... |
Task1_train_10173 | A change on Chromosome 6 affects gene PSMB8 (proteasome 20S subunit beta 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; PSMB8-related disorder | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... | ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGAC... |
Task1_train_10174 | This variant affects gene PSMB9 (proteasome 20S subunit beta 9) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Proteasome-associated autoinflammatory syndrome 6 | TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCAT... | TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCAT... |
Task1_train_10175 | A sequence alteration has been identified in PSMB9 (proteasome 20S subunit beta 9) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) | TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCAT... | TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCAT... |
Task1_train_10176 | Assess the clinical impact of this variant on gene COL11A2 (collagen type XI alpha 2 chain), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant | CCTCTGAGCACCTTGGCCCCATCAGGGTGACTCAGGATGTACAGACTGGCAGTGTCTATGTGCCCATGCGTGTGTGTTTGCTTCTCCCCCACCGTGTGCCTCTGCTGGGCAGCCATGTGCCAGTCTGTGTACACGTCTGCATTAACCTGTGTGACGCTGGTGTTTGTACCCAAGTGAACCTCACCCGATGGCTTCCATCCTTTCCACCTTCCTCACCGGCTTTTGAGCTCCCTCAGGCATCCCTGACAATCCAGCAGGACGGACTCCTCCCTGCTCCCCCTGGGTGCCCTGCCCAAGGGGTCTTCCCACCTCCTTCCTCC... | CCTCTGAGCACCTTGGCCCCATCAGGGTGACTCAGGATGTACAGACTGGCAGTGTCTATGTGCCCATGCGTGTGTGTTTGCTTCTCCCCCACCGTGTGCCTCTGCTGGGCAGCCATGTGCCAGTCTGTGTACACGTCTGCATTAACCTGTGTGACGCTGGTGTTTGTACCCAAGTGAACCTCACCCGATGGCTTCCATCCTTTCCACCTTCCTCACCGGCTTTTGAGCTCCCTCAGGCATCCCTGACAATCCAGCAGGACGGACTCCTCCCTGCTCCCCCTGGGTGCCCTGCCCAAGGGGTCTTCCCACCTCCTTCCTCC... |
Task1_train_10177 | A variant was discovered on Chromosome 6, affecting COL11A2 (collagen type XI alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant | GGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCA... | GGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCA... |
Task1_train_10178 | An alteration has been detected in COL11A2 (collagen type XI alpha 2 chain) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 53 | CCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCC... | CCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCC... |
Task1_train_10179 | A variant was discovered in gene COL11A2 (collagen type XI alpha 2 chain), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 13 | ATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTG... | ATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTG... |
Task1_train_10180 | Gene COL11A2 (collagen type XI alpha 2 chain), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; COL11A2-related disorder | CCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCT... | CCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCT... |
Task1_train_10181 | The following genetic variant occurs in COL11A2 (collagen type XI alpha 2 chain) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CCAGAGTGGCAGAATCAGGACCAGATCCCAGGCCTTCCAGAATTCTTTGCCTCCCCTCTGCGCTTTGTGGCAATGCATGAGCCCTTCCACAGTGGCTTCCAGAGACAGGGCTCAGCTTTAGATGCCTTGGCCTTCCAATGGCAGTGATGATGAGAATTCTCTGGACCTCTAGAAATGGAGTGGGGAGAACCCATTCCTGAGTTCCAATGGCATTTACTTTTGCCCACACATGGTGCTTAGCATACTCTCCATTGCACCGTAATTTAGGGATGTTGTCTCATTTCCAGAGCCCACCTGGGAGCTCTTGGGGGTGATAGAGA... | CCAGAGTGGCAGAATCAGGACCAGATCCCAGGCCTTCCAGAATTCTTTGCCTCCCCTCTGCGCTTTGTGGCAATGCATGAGCCCTTCCACAGTGGCTTCCAGAGACAGGGCTCAGCTTTAGATGCCTTGGCCTTCCAATGGCAGTGATGATGAGAATTCTCTGGACCTCTAGAAATGGAGTGGGGAGAACCCATTCCTGAGTTCCAATGGCATTTACTTTTGCCCACACATGGTGCTTAGCATACTCTCCATTGCACCGTAATTTAGGGATGTTGTCTCATTTCCAGAGCCCACCTGGGAGCTCTTGGGGGTGATAGAGA... |
Task1_train_10182 | A genomic change on Chromosome 6 affects COL11A2 (collagen type XI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCG... | CTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCG... |
Task1_train_10183 | This genomic variant is located on Chromosome 6, within the SLC39A7 (solute carrier family 39 member 7) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TGGGGCACTCACCCCGCCCGCTGTCGCCCATCCCGTCCCGTCCAGCCTCCCCTGGCTCCGGCTCCGGGGTTTGTTGTTCTCCGCCTGCCACCGCCGCCGCCGCCGCCGCTGCGGGATCCAGCCAGGGCCGTCGCCGCCGCCACCGGGACGCGACCCCACAATGCATTTCTTTTCGCACCCCCACCGGCCCACACTGCCCTGCGGCATGCCGCTGAGGGAGGAAGGGCGGGCGAGCGGCCCAAGACATGATCCCTGGCTGAGAGTAGGGATACCGAAGAGGTCCCAGGGATTCCCAAGGATTGATCGGAGGATTAGCTGAG... | TGGGGCACTCACCCCGCCCGCTGTCGCCCATCCCGTCCCGTCCAGCCTCCCCTGGCTCCGGCTCCGGGGTTTGTTGTTCTCCGCCTGCCACCGCCGCCGCCGCCGCCGCTGCGGGATCCAGCCAGGGCCGTCGCCGCCGCCACCGGGACGCGACCCCACAATGCATTTCTTTTCGCACCCCCACCGGCCCACACTGCCCTGCGGCATGCCGCTGAGGGAGGAAGGGCGGGCGAGCGGCCCAAGACATGATCCCTGGCTGAGAGTAGGGATACCGAAGAGGTCCCAGGGATTCCCAAGGATTGATCGGAGGATTAGCTGAG... |
Task1_train_10184 | This mutation is located in gene SLC39A7 (solute carrier family 39 member 7) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Agammaglobulinemia 9, autosomal recessive | GAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGAC... | GAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGAC... |
Task1_train_10185 | Here is a genetic alteration in SLC39A7 (solute carrier family 39 member 7) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTT... | TGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTT... |
Task1_train_10186 | This alteration occurs within gene SYNGAP1 (synaptic Ras GTPase activating protein 1) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | AGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGGGTTTTACAGGTAAAGGGAAGCTGAGGACTGATTCTAGGGCAGTTTGCAGGCAATTTGCAATTCTGGAAGCAGACAGTGAAAATATAATTGTGGTCCTCCCTTGTTC... | AGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGGGTTTTACAGGTAAAGGGAAGCTGAGGACTGATTCTAGGGCAGTTTGCAGGCAATTTGCAATTCTGGAAGCAGACAGTGAAAATATAATTGTGGTCCTCCCTTGTTC... |
Task1_train_10187 | Gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 5 | GGAAGCTGGGGGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACA... | GGAAGCTGGGGGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACA... |
Task1_train_10188 | This is a variant in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAAT... | AAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAAT... |
Task1_train_10189 | This genomic variant is located on Chromosome 6, within the SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCT... | GAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCT... |
Task1_train_10190 | This sequence change occurs on Chromosome 6, altering SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability, autosomal dominant 5 | TGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGG... | TGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGG... |
Task1_train_10191 | A genetic alteration is present in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability, autosomal dominant 5 | TAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACAT... | TAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACAT... |
Task1_train_10192 | A sequence alteration has been identified in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, autosomal dominant 5 | CAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATA... | CAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATA... |
Task1_train_10193 | The gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGT... | CACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGT... |
Task1_train_10194 | Assess the clinical impact of this variant on gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 5 | AAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCT... | AAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCT... |
Task1_train_10195 | The variant affects gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal dominant 5 | CCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCT... | CCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCT... |
Task1_train_10196 | This variant affects the gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 5 | TCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGT... | TCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGT... |
Task1_train_10197 | This sequence variant lies in ITPR3 (inositol 1,4,5-trisphosphate receptor type 3) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J | TCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGGACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAAACAGGTGCGTGTGCACCCATGAGGGGACGCAGAGGGGCCGGGTGCCCGGGAGAGGGATGCCTTCAACTGCAGGCTCATCCCCCGCTTTAACAAAAATCAGTATATATGGGGCACGACCACGTGCCAGGGACTTCCCTAAGTACCCCACATGTGTTGACGAATTTGATCCTCACTGCCTGGAGGAGGCGCCGTGATTCTTACCCCGTTTTACTGGTGAGGA... | TCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGGACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAAACAGGTGCGTGTGCACCCATGAGGGGACGCAGAGGGGCCGGGTGCCCGGGAGAGGGATGCCTTCAACTGCAGGCTCATCCCCCGCTTTAACAAAAATCAGTATATATGGGGCACGACCACGTGCCAGGGACTTCCCTAAGTACCCCACATGTGTTGACGAATTTGATCCTCACTGCCTGGAGGAGGCGCCGTGATTCTTACCCCGTTTTACTGGTGAGGA... |
Task1_train_10198 | Gene ITPR3 (inositol 1,4,5-trisphosphate receptor type 3), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J | AGCCCGACCCACCCCTGCTCCTGTCAGAGCTCAGCCAGGGCCTCGCCTCCCTCCTTGGTGGGCCCAGCACCCTCTCCCTGACTCCTGTGTCCAGGGTGATGCCAAGATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGCAACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGGTGAGGGTGCAGGGCTGGGAGCACCTGGACGAGGCGGGGGATGGGGGGTGGGGGCGGGGCCCAGATCTCTTTCTGACAGATGCCCCCCACTGCAGCTCCTGGA... | AGCCCGACCCACCCCTGCTCCTGTCAGAGCTCAGCCAGGGCCTCGCCTCCCTCCTTGGTGGGCCCAGCACCCTCTCCCTGACTCCTGTGTCCAGGGTGATGCCAAGATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGCAACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGGTGAGGGTGCAGGGCTGGGAGCACCTGGACGAGGCGGGGGATGGGGGGTGGGGGCGGGGCCCAGATCTCTTTCTGACAGATGCCCCCCACTGCAGCTCCTGGA... |
Task1_train_10199 | The gene ITPR3 (inositol 1,4,5-trisphosphate receptor type 3) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; ITPR3-related disorder | TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGG... | TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGG... |
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