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_12500 | This mutation is located in gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Lethal congenital glycogen storage disease of heart | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... |
Task1_train_12501 | Mutation context: Chromosome 7, Gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lethal congenital glycogen storage disease of heart | TCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGG... | TCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGG... |
Task1_train_12502 | This alteration in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypertrophic cardiomyopathy 6 | AGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATA... | AGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATA... |
Task1_train_12503 | Gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Lethal congenital glycogen storage disease of heart | CTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAA... | CTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAA... |
Task1_train_12504 | A variant has been detected on Chromosome 7 in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lethal congenital glycogen storage disease of heart | CATCTCAACATAGCGAATTCCCTGTTGCACACTATAGGCTTAGGCTAATTTTCAAACGTCTTGAAGGGTAATGCTCCTTTTTTCTCAGAAAATGATCTCATAATTCAGTAAAAATCAGGCTCTGAAATGTCTTTAAGTTCTATATTTTTAACTGAAAACCTTTAGTTAGCTGAATATTCTGGTAGCATGATTCTAATTACCATATTGGCCCAAATATGAGGCAGTACTGGGCAGAGGCAACTTCCTCTCCTTTTTATAGAAGATAAAAATCTGAAGCAGCTCTGCAAAAGAATGATCTCACGCTTTTACTCCCTCTTGTG... | CATCTCAACATAGCGAATTCCCTGTTGCACACTATAGGCTTAGGCTAATTTTCAAACGTCTTGAAGGGTAATGCTCCTTTTTTCTCAGAAAATGATCTCATAATTCAGTAAAAATCAGGCTCTGAAATGTCTTTAAGTTCTATATTTTTAACTGAAAACCTTTAGTTAGCTGAATATTCTGGTAGCATGATTCTAATTACCATATTGGCCCAAATATGAGGCAGTACTGGGCAGAGGCAACTTCCTCTCCTTTTTATAGAAGATAAAAATCTGAAGCAGCTCTGCAAAAGAATGATCTCACGCTTTTACTCCCTCTTGTG... |
Task1_train_12505 | A change on Chromosome 7 affects gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Lethal congenital glycogen storage disease of heart | TATTATTTTACCAAATTGATGCTCAAAACCTACTGCATTGTGGGCATCTTTCCAGCACATAAAAACTGTTTTTTTCTGAAGATATCAACTGCAATTAATTTGCTTTTCCAAGGTTTCTTTTTTTTTCTGAGACAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTGGGTTCACTGCAATCTCTGCCTCCCAGGTACAAGCAATTCTCCCACCTCAGCCTCCCAAATAGCTGGGACTAAAGGTGCACGTCACCACACCCTGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATGATGTTGGCC... | TATTATTTTACCAAATTGATGCTCAAAACCTACTGCATTGTGGGCATCTTTCCAGCACATAAAAACTGTTTTTTTCTGAAGATATCAACTGCAATTAATTTGCTTTTCCAAGGTTTCTTTTTTTTTCTGAGACAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTGGGTTCACTGCAATCTCTGCCTCCCAGGTACAAGCAATTCTCCCACCTCAGCCTCCCAAATAGCTGGGACTAAAGGTGCACGTCACCACACCCTGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATGATGTTGGCC... |
Task1_train_12506 | Here is a mutation in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12507 | The variant affects gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cardiovascular phenotype | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12508 | A genetic alteration is present in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12509 | A sequence alteration has been identified in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Primary familial hypertrophic cardiomyopathy | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12510 | Gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardiomyopathy | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12511 | A mutation on Chromosome 7 affecting PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypertrophic cardiomyopathy 6 | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12512 | Consider this mutation in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Lethal congenital glycogen storage disease of heart | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12513 | Consider this mutation in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Wolff-Parkinson-White pattern | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... | TACTAGGGACCAGAGAGTTCTGCTACTAAAATCAGCCAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTT... |
Task1_train_12514 | A variant on Chromosome 7 in gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lethal congenital glycogen storage disease of heart | CAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTTGAGTTTCATACATATAACTTACAGTAAAGAGAGTTT... | CAGGAGCTGTCTCTTCCTAATTAGCAGGAACATGTCAAAACGGAATTTATTTCACTTTAATGACTCATTTTTTTCTGCTTTAAAATCACAAAGTACATATAATTCTTGTTCTGCAATTGCTGGGGTAACTGAATTAAGCTCTACCACCTCAACAGGCCCGCAGAGATAAGCAAAACTTACAGAACGTCTAGCTAATAAATATGTAGAATTCTGCTAAGCCAAGGAATTCCGAAAGCTGAATAAAGAATCTATTTCCTTTTATTTTTCCTGAGAATTCCTTCTTTGAGTTTCATACATATAACTTACAGTAAAGAGAGTTT... |
Task1_train_12515 | A genomic change on Chromosome 7 affects DPP6 (dipeptidyl peptidase like 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability, autosomal dominant 33 | CAACAATTGAGAACAAAAGCAGCATTCTTCCTAATTAGCATGAAGGACATAGAGGGAAAAAATAGTCATTCCGGGAGACCTTACATTTTCTTTCTTGATTGCATGCAGACGAAATGTGTTTGCTGAGAGAGTAAGTGCAGGGTACCCTGTGGCTTCGCCACTGCCCCCATTGTGGACATGGAATCTTGCAACCACAGGCCCCATGTGGCTCTCACACACGTCCCATGGTAGGGAATAAGTTCTCATGAGATCTGATGGTTTTATAAATGGCAGTTTCCCTGCACACGCTTCAGCGTCCTCCAGTGTGGACTCAAAGACCA... | CAACAATTGAGAACAAAAGCAGCATTCTTCCTAATTAGCATGAAGGACATAGAGGGAAAAAATAGTCATTCCGGGAGACCTTACATTTTCTTTCTTGATTGCATGCAGACGAAATGTGTTTGCTGAGAGAGTAAGTGCAGGGTACCCTGTGGCTTCGCCACTGCCCCCATTGTGGACATGGAATCTTGCAACCACAGGCCCCATGTGGCTCTCACACACGTCCCATGGTAGGGAATAAGTTCTCATGAGATCTGATGGTTTTATAAATGGCAGTTTCCCTGCACACGCTTCAGCGTCCTCCAGTGTGGACTCAAAGACCA... |
Task1_train_12516 | This variant affects gene SHH (sonic hedgehog signaling molecule) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Holoprosencephaly 3 | GACGATTCGGCCCAAAGCACAAAGCATGGCAGACACCTTCCGTAAGCCAAAGAACTGGGAGTAGTCCTCCACCTGGGACCCTGACAACCGCCAAGGGCAGAGACCCTCTTGGCCAAACCTCCAAGGCAGCATGAAGCATGGAAGGACCTTCCCCAGCCCAGCGCCCACAGCAGCATGCTCTCTCAACAGGGATCAAAGTCCACGCCCGACCGCCATGTGACACAGACAACCAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACC... | GACGATTCGGCCCAAAGCACAAAGCATGGCAGACACCTTCCGTAAGCCAAAGAACTGGGAGTAGTCCTCCACCTGGGACCCTGACAACCGCCAAGGGCAGAGACCCTCTTGGCCAAACCTCCAAGGCAGCATGAAGCATGGAAGGACCTTCCCCAGCCCAGCGCCCACAGCAGCATGCTCTCTCAACAGGGATCAAAGTCCACGCCCGACCGCCATGTGACACAGACAACCAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACC... |
Task1_train_12517 | The variant affects gene SHH (sonic hedgehog signaling molecule), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; SHH-related disorder | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... |
Task1_train_12518 | Gene SHH (sonic hedgehog signaling molecule) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Holoprosencephaly 3 | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... |
Task1_train_12519 | Gene SHH (sonic hedgehog signaling molecule) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Solitary median maxillary central incisor syndrome | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... | CAGTGTAGCCTGAGGACCTCAACAGCAGCCCCGACATTCCAGCGACTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTAC... |
Task1_train_12520 | Chromosome 7 houses a mutation in gene SHH (sonic hedgehog signaling molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Solitary median maxillary central incisor syndrome | CTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTACACATCAGGCTTTGCTAGTTAAGGGGTGGGGTGAGGGGGACAGCAC... | CTGGCCCTCGCCACTGTGGGCTTGCCACTCAGATTTAAGGGGACCCTCAAGAAAAGAGGATAGGAGCTTCAGAGAAGATCAAACCGGGTCCTCTCTTCTAAGGATGCTTTCTGGAAGGGACACAACAGGACCTCAGAAAGCAGCAATGAGCCTCCTCCCTACAGATCAGAGAAGCACAAACAGGGTCAGGCCAGGGGTCTGCCCAGCAACCACACACAGGAGTCCTAAGAGAAGGTTGTTGGTGGCCATCCCCAGGCCACCTCCTCTGGGCTTACACATCAGGCTTTGCTAGTTAAGGGGTGGGGTGAGGGGGACAGCAC... |
Task1_train_12521 | This sequence variant lies in SHH (sonic hedgehog signaling molecule) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Holoprosencephaly 3 | GCTAGTTAAGGGGTGGGGTGAGGGGGACAGCACAGTCCCCACGAATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGC... | GCTAGTTAAGGGGTGGGGTGAGGGGGACAGCACAGTCCCCACGAATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGC... |
Task1_train_12522 | The gene SHH (sonic hedgehog signaling molecule) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Holoprosencephaly 3 | CCCACGAATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATA... | CCCACGAATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATA... |
Task1_train_12523 | Here’s a variant in SHH (sonic hedgehog signaling molecule) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Holoprosencephaly 3 | ATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAA... | ATGGCACTCCCAACCTTTGGGAGTGTAGAAAGAGCTTCACACAATAAATACAAACAGAGCTGAGGTTTCTCCAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAA... |
Task1_train_12524 | A mutation on Chromosome 7 affecting SHH (sonic hedgehog signaling molecule) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Schizencephaly | CAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAAATACATTTTAGTAAATTTACAGCGTTATTTCTCAATTTATTAATGCAAAAACATCCTTTGTTTTCTCTGTA... | CAGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAAATACATTTTAGTAAATTTACAGCGTTATTTCTCAATTTATTAATGCAAAAACATCCTTTGTTTTCTCTGTA... |
Task1_train_12525 | Mutation context: Chromosome 7, Gene SHH (sonic hedgehog signaling molecule). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Solitary median maxillary central incisor syndrome | AGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAAATACATTTTAGTAAATTTACAGCGTTATTTCTCAATTTATTAATGCAAAAACATCCTTTGTTTTCTCTGTAC... | AGCCATGAGAAGAAACAAGTTGGTTTGTGTGCCTACTTTGGTTACCTAAGTCAGTCAGTCTGAGTTCACAGTATAAGCAACACATCTAAATAGAATATTGGGAGCTCCTGTCAGCGCTAGGTTTCCCAAACAAAGAAGCCAAAAACTAAAAGAAAAAGGGCTGCAACAGGAATTCTTAGTTATTAGATACTAAGCGTTCTGTGCATGGCACATTTTATTTCTATAAAACTATTACAAAATATTCAAAAATACATTTTAGTAAATTTACAGCGTTATTTCTCAATTTATTAATGCAAAAACATCCTTTGTTTTCTCTGTAC... |
Task1_train_12526 | Given a variant located on Chromosome 7 and affecting SHH (sonic hedgehog signaling molecule), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Holoprosencephaly 3 | GCCTGCCCGCAGCACCCTGCCGCGCCTCGGCGTGGGCCTGCGGAGGGGCGGGGGCGGGGAGTGAAAAATAGCTGCAGTAGTTGTAGCAACTGGACAAACATTCCAGAGATTGGCCGAGGTGTGAAAATCCGAGGCTTGTGTGGATTTTCTAATTAAAATCCAATAAAGGGCCCAGCATTGTCATTGTGATTTCTGGGATAAACAGGAGACACTCTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCAC... | GCCTGCCCGCAGCACCCTGCCGCGCCTCGGCGTGGGCCTGCGGAGGGGCGGGGGCGGGGAGTGAAAAATAGCTGCAGTAGTTGTAGCAACTGGACAAACATTCCAGAGATTGGCCGAGGTGTGAAAATCCGAGGCTTGTGTGGATTTTCTAATTAAAATCCAATAAAGGGCCCAGCATTGTCATTGTGATTTCTGGGATAAACAGGAGACACTCTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCAC... |
Task1_train_12527 | Consider a variant on Chromosome 7 in gene SHH (sonic hedgehog signaling molecule). Determine its clinical classification and disease relevance. | Pathogenic; Holoprosencephaly 3 | CTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGG... | CTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGG... |
Task1_train_12528 | A variant affecting Chromosome 7, within the gene SHH (sonic hedgehog signaling molecule), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Holoprosencephaly 3 | CTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGG... | CTTGGAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGG... |
Task1_train_12529 | This variant lies on Chromosome 7 and affects the gene SHH (sonic hedgehog signaling molecule). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Holoprosencephaly 3 | GAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGGGGCC... | GAAGGGGACACTTCCATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGGGGCC... |
Task1_train_12530 | Gene SHH (sonic hedgehog signaling molecule), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Solitary median maxillary central incisor syndrome | CATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGGGGCCGGGGAGGAGGGCGG... | CATTTTCTCCCCTCCCTGTTCTCAGCTCACTCTCTCCCCAGCTCGCGGGCCTCCCCCTCCCTATTTGCTCAGGTGCAACCCCCCCCCACCCCGTGTGCAATTCACAAGCACTATTTGCACAGCCAGGCCTCTCTTCCAAGCACTCAAGATGTGTATTTGAATTTTAAATGGCGGGGCCTGTTCGGAGCGCTGGAAGCGCCGGGTCTCAAGGCCCCTTGACTACCCGCTTTCTCGAGCCCTCTGTCGCTCTCTGAGGCTCACTGTCCCCAGGACAATAATTGAAGTTGGGGCGGAGCGCAGGGGGCCGGGGAGGAGGGCGG... |
Task1_train_12531 | This alteration occurs within gene SHH (sonic hedgehog signaling molecule) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Holoprosencephaly 3 | GAGAGTGGCCGGGCGCGGGGCCGCTGGGCCCTGCGTCCCCCGGCAGGGCGGACGGGGGTCGGGGGGAGGCCCCCGGGCTGGGGGCTCCGGCTGGGACGCGGAGGCCTAGAGGCCAGGCAGGCGGCGGACTGGGGATGGGGGCGCGTCCCAGGGCAGGCCGGCGGAGCCCGCGATGCGCCCCGGCCCCTGCGCGGGCGCCCCCATCTCCGCGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCT... | GAGAGTGGCCGGGCGCGGGGCCGCTGGGCCCTGCGTCCCCCGGCAGGGCGGACGGGGGTCGGGGGGAGGCCCCCGGGCTGGGGGCTCCGGCTGGGACGCGGAGGCCTAGAGGCCAGGCAGGCGGCGGACTGGGGATGGGGGCGCGTCCCAGGGCAGGCCGGCGGAGCCCGCGATGCGCCCCGGCCCCTGCGCGGGCGCCCCCATCTCCGCGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCT... |
Task1_train_12532 | A mutation on Chromosome 7 affecting SHH (sonic hedgehog signaling molecule) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Holoprosencephaly 3 | CCCCGGCAGGGCGGACGGGGGTCGGGGGGAGGCCCCCGGGCTGGGGGCTCCGGCTGGGACGCGGAGGCCTAGAGGCCAGGCAGGCGGCGGACTGGGGATGGGGGCGCGTCCCAGGGCAGGCCGGCGGAGCCCGCGATGCGCCCCGGCCCCTGCGCGGGCGCCCCCATCTCCGCGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCTCGCGCACTGAAACCCTAGCCGCGGGGGATCGATAACC... | CCCCGGCAGGGCGGACGGGGGTCGGGGGGAGGCCCCCGGGCTGGGGGCTCCGGCTGGGACGCGGAGGCCTAGAGGCCAGGCAGGCGGCGGACTGGGGATGGGGGCGCGTCCCAGGGCAGGCCGGCGGAGCCCGCGATGCGCCCCGGCCCCTGCGCGGGCGCCCCCATCTCCGCGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCTCGCGCACTGAAACCCTAGCCGCGGGGGATCGATAACC... |
Task1_train_12533 | This mutation is located in gene SHH (sonic hedgehog signaling molecule) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Holoprosencephaly 3 | CGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCTCGCGCACTGAAACCCTAGCCGCGGGGGATCGATAACCCGGGAGTAAGTGGGGCTGCAGGCGTCTGCCTCGCTGCGCGGCTCTGTGCGCTTGCAGCTTTGCAGCAGGGCTGCAAGGCCCAAGCCCTGGGAAGGTGTGCGAGCCCAGGACCCCTTCTGCGGTATTGGCCTCCCGCAGAGCAGGGCAGAAGCTGACCCACTCTGGCTCTGGG... | CGCCCCCGCCGCCGGGGACACTACAGCGAGCCCGGCGCTGCTGTTAGCTCCTGCGGTGCCTGCGCTCCCGCGCGTGGAGCAGCAGAGCCCGGCGGCTCCAGCCCAGCCCCTCGCGCACTGAAACCCTAGCCGCGGGGGATCGATAACCCGGGAGTAAGTGGGGCTGCAGGCGTCTGCCTCGCTGCGCGGCTCTGTGCGCTTGCAGCTTTGCAGCAGGGCTGCAAGGCCCAAGCCCTGGGAAGGTGTGCGAGCCCAGGACCCCTTCTGCGGTATTGGCCTCCCGCAGAGCAGGGCAGAAGCTGACCCACTCTGGCTCTGGG... |
Task1_train_12534 | The gene MNX1 (motor neuron and pancreas homeobox 1) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | ATGGAAGGGGCCCGGGGTGATAATGAGTTGCCAGAGAGGATATTAATCTCCCCGCGCCCTGAGGCAGAGGAGTGGCTGCGCTCGCCCCGCGGTAATCACCCAAATGAAACGCCAGGCCCTTCTGAACTCATTTTATCCGCTGGGAGGAGGGGAGGGGAGGAGGGAGGAGAAGGGCACACGCAGGTGCTGCTGAGAAAGTGACAAACAGAAGGAAGGAGGAAGGCCCGGGAGAAGGGATAGGAGCGGCGTCCCCGTCGCCCGTCTCCTCCGGGGCCAGGAGAGGCCACTGGGTCATCGATGGGGGAAGGGGGCCGGGAGTC... | ATGGAAGGGGCCCGGGGTGATAATGAGTTGCCAGAGAGGATATTAATCTCCCCGCGCCCTGAGGCAGAGGAGTGGCTGCGCTCGCCCCGCGGTAATCACCCAAATGAAACGCCAGGCCCTTCTGAACTCATTTTATCCGCTGGGAGGAGGGGAGGGGAGGAGGGAGGAGAAGGGCACACGCAGGTGCTGCTGAGAAAGTGACAAACAGAAGGAAGGAGGAAGGCCCGGGAGAAGGGATAGGAGCGGCGTCCCCGTCGCCCGTCTCCTCCGGGGCCAGGAGAGGCCACTGGGTCATCGATGGGGGAAGGGGGCCGGGAGTC... |
Task1_train_12535 | Given this context: Chromosome 7, gene MNX1, MNX1-AS2 (motor neuron and pancreas homeobox 1| MNX1 antisense RNA 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Currarino triad | ACGAAGCAACAGCTAGCAAGGAAATAGGAAAATAAATAGAGTCCACAGCTCCGCTTCCGAGGGACACGTGTCCCGGGACAGGTGTGCACCAGGCAGCCGGGCATGCGCTGACACCTGGCCACAGGTATTTTTGCCAACACTTCACATTGCGACTCCCCAGTAGCAGGCGCGGAGGTGGTCCTGACACCCACTTGAGACTCCGATTTTCACCCTCAGCTGCCAACCGCCGAGTAGACACCCTCCCCATCATTTCTACAAGCAAATTGTAATGCCGCGGGCATAATCCCCCAAAACTCGTGCACGCTGATCCAGTACAAAAC... | ACGAAGCAACAGCTAGCAAGGAAATAGGAAAATAAATAGAGTCCACAGCTCCGCTTCCGAGGGACACGTGTCCCGGGACAGGTGTGCACCAGGCAGCCGGGCATGCGCTGACACCTGGCCACAGGTATTTTTGCCAACACTTCACATTGCGACTCCCCAGTAGCAGGCGCGGAGGTGGTCCTGACACCCACTTGAGACTCCGATTTTCACCCTCAGCTGCCAACCGCCGAGTAGACACCCTCCCCATCATTTCTACAAGCAAATTGTAATGCCGCGGGCATAATCCCCCAAAACTCGTGCACGCTGATCCAGTACAAAAC... |
Task1_train_12536 | This variant affects the gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | AAGTGTGAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTT... | AAGTGTGAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTT... |
Task1_train_12537 | Given a variant located on Chromosome 7 and affecting DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | GAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGC... | GAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGC... |
Task1_train_12538 | This alteration occurs within gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | GAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGC... | GAAGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGC... |
Task1_train_12539 | Gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | AGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTT... | AGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTT... |
Task1_train_12540 | A mutation in DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Abnormality of the musculature | AGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTT... | AGACTGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTT... |
Task1_train_12541 | This mutation is located in gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | TGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGA... | TGTCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGA... |
Task1_train_12542 | Given this context: Chromosome 7, gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | TCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGA... | TCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGA... |
Task1_train_12543 | Here’s a variant in DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | TCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGA... | TCAGTGGAGAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGA... |
Task1_train_12544 | The gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | GAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTT... | GAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTT... |
Task1_train_12545 | Gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | GAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTT... | GAGGGGCACACTAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTT... |
Task1_train_12546 | A variant was discovered in gene DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | TAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTTTGCTCGTTGCC... | TAGCCCCAGGCCTTGCATCCGGGTGGTCCACTTCGAGGGTGAATGAGCCTGTAGGGTGTTAGGTTGGCGCCTTTCTGGCACATCTGCTTTCTCCCACTTGCCTAGGCCCTGGCATGTTTGTTTTCGTGCTGCAGATATGGTCCTCTAATTGGGTTTTTGTAGTAAGATGGTGCACTTCTGTGGTTGCAATAATCTTGTACTTGGTCGTGTGATTTTAATGTAGCATGTCTGGGCTCTGTGCAGTAGAGTGAAAGAAACGATCTAATGGAATAAAGAAAAAAATTTTTTTTTGCTTTTGAGATGGAGTTTTGCTCGTTGCC... |
Task1_train_12547 | A sequence alteration has been identified in NCAPG2 (non-SMC condensin II complex subunit G2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Khan-Khan-Katsanis syndrome | CTGGCCAAGACAGTGAAACCTCACCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCTAGAGGTGGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCACTCCAGCCTGGGCAACAGAGAAAGACTTGGTCTCAAAAAAAAAAAAATAAAAAAAAAAATAATAATAATAATTAAACAAAAAAGCTGAAGCAAATAATATTGGTCTATTTAATATTTACTCTTAAACTTTAGATCTGTTAAACAAATGATGGATGAT... | CTGGCCAAGACAGTGAAACCTCACCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCTAGAGGTGGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCACTCCAGCCTGGGCAACAGAGAAAGACTTGGTCTCAAAAAAAAAAAAATAAAAAAAAAAATAATAATAATAATTAAACAAAAAAGCTGAAGCAAATAATATTGGTCTATTTAATATTTACTCTTAAACTTTAGATCTGTTAAACAAATGATGGATGAT... |
Task1_train_12548 | This sequence variant lies in NCAPG2 (non-SMC condensin II complex subunit G2) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Khan-Khan-Katsanis syndrome | ACTGATGGTCACCAAGGCCTACCATAACAACATCTTTACACACAGTCAGGTAGGTCTGTAAGAGACAGACACAGCTTAGCAACAAAGGCCATTTTTAAAAAGGGAGTAAATCCAGCCTCACAAAGCTTCTCCTATCCATGTGCTAGTTATCTTATAAAGCAGATTTTTATAAAGATGTTTTATAAAGGAATTTTCATAAAGATACATTAATTCTTGTTTTTGTAAGAAATCTAGAGACATATTTTATGTAATTCCACAAACATAATCGAACACCTCTTATATGTAATGTATAAAATTACACTGAAAGTATGCAGTTTACG... | ACTGATGGTCACCAAGGCCTACCATAACAACATCTTTACACACAGTCAGGTAGGTCTGTAAGAGACAGACACAGCTTAGCAACAAAGGCCATTTTTAAAAAGGGAGTAAATCCAGCCTCACAAAGCTTCTCCTATCCATGTGCTAGTTATCTTATAAAGCAGATTTTTATAAAGATGTTTTATAAAGGAATTTTCATAAAGATACATTAATTCTTGTTTTTGTAAGAAATCTAGAGACATATTTTATGTAATTCCACAAACATAATCGAACACCTCTTATATGTAATGTATAAAATTACACTGAAAGTATGCAGTTTACG... |
Task1_train_12549 | Gene NCAPG2 (non-SMC condensin II complex subunit G2), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Khan-Khan-Katsanis syndrome | GTCCGCCAACCTACCTGGTGTCCTATATGGGCTTCTGTTCATATTCTGAAATAATGCTGGTTTCTCAGTCCCAGGTCATTATTTCAGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAGAGGCAGGGTCTCACTCTGTTGCCAGGGCTGGAGTGAGTGCAGTAGTATGATCACAGTTCACTGTAGTCTCAAACTCTGGGCTCAAGCAATCCTGCCTCAGCCTCCTGCATAGCTGGGACCAAAAGGCACAGGCCATCAAGCCCAGCTAATTTTTTAAATTTTGTAGAAACGAGGTCTCACTATGTTGCCCAGGCT... | GTCCGCCAACCTACCTGGTGTCCTATATGGGCTTCTGTTCATATTCTGAAATAATGCTGGTTTCTCAGTCCCAGGTCATTATTTCAGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAGAGGCAGGGTCTCACTCTGTTGCCAGGGCTGGAGTGAGTGCAGTAGTATGATCACAGTTCACTGTAGTCTCAAACTCTGGGCTCAAGCAATCCTGCCTCAGCCTCCTGCATAGCTGGGACCAAAAGGCACAGGCCATCAAGCCCAGCTAATTTTTTAAATTTTGTAGAAACGAGGTCTCACTATGTTGCCCAGGCT... |
Task1_train_12550 | With a mutation on Chromosome 7 in gene DYNC2I1 (dynein 2 intermediate chain 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Short-rib thoracic dysplasia 8 with or without polydactyly | GAACTGAGGGGCTGATAGGTGTTTGTGGTGTGTGTGTGGCTGGGGTTGGCCGGGTGCTGCTTTCCACATTGACTTGGCGCCTGCCAGCGGTGCGGTCCAGTTCTTTGACTGAAGTTCTCGCCAGTCATGGACTTCCTATCCTCCTGTTTCACGAGCTCCATCTCCATCTTCTGCTGATGTGTGAGAGCTGCCGGCACGGCCAGCAGTGGCAACAGTAACGCCTTGGAGTGCAGTCCCTCGCCGGGTGGAGCAGTGTCTGGAACGGCGCTCAGCCGCTCGCAGCCTTTGAGGAGAGCAGTGTGCCACGTGGTGTTCCAGTG... | GAACTGAGGGGCTGATAGGTGTTTGTGGTGTGTGTGTGGCTGGGGTTGGCCGGGTGCTGCTTTCCACATTGACTTGGCGCCTGCCAGCGGTGCGGTCCAGTTCTTTGACTGAAGTTCTCGCCAGTCATGGACTTCCTATCCTCCTGTTTCACGAGCTCCATCTCCATCTTCTGCTGATGTGTGAGAGCTGCCGGCACGGCCAGCAGTGGCAACAGTAACGCCTTGGAGTGCAGTCCCTCGCCGGGTGGAGCAGTGTCTGGAACGGCGCTCAGCCGCTCGCAGCCTTTGAGGAGAGCAGTGTGCCACGTGGTGTTCCAGTG... |
Task1_train_12551 | Here is a mutation in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Blepharophimosis-impaired intellectual development syndrome | AGATGAATGACCACGTTTTTTGGAATGAATAACACATTAAGTCGTGTCTTCAAATCTAAGAAGGTCTGTGTTTTGAAGCCTCTGGTGCTTATCTTTCTTTTTTAATGGCAGAAATTATTCTCTAACAGTGTAATAAGTGATTTTTAAGTTGATTTTGAAATGTTGCCTTTTTTGTGATAGCCTTGTTATGGTCAAAGGCTATTCATGGATTATTACATTTGCACTGTTATTTTTTAATGGGCATATAAGCACAGAAGAGATAGGTTTATATCATTGGCCTGAGTATTTGTTTTTATTGACCATTTATTTTTGGAATTGGA... | AGATGAATGACCACGTTTTTTGGAATGAATAACACATTAAGTCGTGTCTTCAAATCTAAGAAGGTCTGTGTTTTGAAGCCTCTGGTGCTTATCTTTCTTTTTTAATGGCAGAAATTATTCTCTAACAGTGTAATAAGTGATTTTTAAGTTGATTTTGAAATGTTGCCTTTTTTGTGATAGCCTTGTTATGGTCAAAGGCTATTCATGGATTATTACATTTGCACTGTTATTTTTTAATGGGCATATAAGCACAGAAGAGATAGGTTTATATCATTGGCCTGAGTATTTGTTTTTATTGACCATTTATTTTTGGAATTGGA... |
Task1_train_12552 | This is a variant in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Nicolaides-Baraitser syndrome | ACGTTTTTTGGAATGAATAACACATTAAGTCGTGTCTTCAAATCTAAGAAGGTCTGTGTTTTGAAGCCTCTGGTGCTTATCTTTCTTTTTTAATGGCAGAAATTATTCTCTAACAGTGTAATAAGTGATTTTTAAGTTGATTTTGAAATGTTGCCTTTTTTGTGATAGCCTTGTTATGGTCAAAGGCTATTCATGGATTATTACATTTGCACTGTTATTTTTTAATGGGCATATAAGCACAGAAGAGATAGGTTTATATCATTGGCCTGAGTATTTGTTTTTATTGACCATTTATTTTTGGAATTGGACCTCAGAGCACA... | ACGTTTTTTGGAATGAATAACACATTAAGTCGTGTCTTCAAATCTAAGAAGGTCTGTGTTTTGAAGCCTCTGGTGCTTATCTTTCTTTTTTAATGGCAGAAATTATTCTCTAACAGTGTAATAAGTGATTTTTAAGTTGATTTTGAAATGTTGCCTTTTTTGTGATAGCCTTGTTATGGTCAAAGGCTATTCATGGATTATTACATTTGCACTGTTATTTTTTAATGGGCATATAAGCACAGAAGAGATAGGTTTATATCATTGGCCTGAGTATTTGTTTTTATTGACCATTTATTTTTGGAATTGGACCTCAGAGCACA... |
Task1_train_12553 | The gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TGTCATCCAACACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCT... | TGTCATCCAACACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCT... |
Task1_train_12554 | Mutation context: Chromosome 9, Gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Nicolaides-Baraitser syndrome | CATCCAACACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCTTCT... | CATCCAACACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCTTCT... |
Task1_train_12555 | This gene mutation involves SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nicolaides-Baraitser syndrome | CACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCTTCTTGCTTCT... | CACCCTTCTAAGCAGTCTTCATCACTCTCTTTTCAAACCTAGCTCCTTCGACTTCCATATGTGAGTTTTATGCCTCTGTGTTGCTGAGCTGCTGTAGATTCCCCGAACATGCCTTGCAGTGTCTCTCTGGATTTATACCTTATGAAGTGCCTTCTTCCTGGAATCTTGACTAGCCATGTCCGCCTGATGAGATCTCACAAACCAGTTCAAGTTGTGGCTCAAACCTTCCCTGATCATTTCTCATAAACCAGTTCAAGTTGTGGCTCAAAGCCTTCCCTGATCATTCTCTCCATGAGTAAGCTTTCTATCTTCTTGCTTCT... |
Task1_train_12556 | This genomic variant is located on Chromosome 9, within the SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nicolaides-Baraitser syndrome | TCTGCCAGGAAGAGAAATGTCCTCCTGTGGTCCCAGCAGAGTGTCCCTGGCTCCCTGGTCAGTCCGCCTTTTCACTGAGGGGACCTCACCCATATTACCGAAAAGGCTGTTTTTAATAATCTGTGATCTGTGTGCCAAATCTGCCTTCACATTGGCTTTTTATTCTTGGAGTGGTTGGATTAGATTTTGGTTTGGGCTTTTTTCATTTATAATAATTCTAGAATGTCACATACTGTGAAATACTAAGTGTGGATGAGCGGCAAAGCTGCTTTAAAACTCACCTGTCAAGAAGCAAGAAGAGAGAAAGCTTACTCATGGAG... | TCTGCCAGGAAGAGAAATGTCCTCCTGTGGTCCCAGCAGAGTGTCCCTGGCTCCCTGGTCAGTCCGCCTTTTCACTGAGGGGACCTCACCCATATTACCGAAAAGGCTGTTTTTAATAATCTGTGATCTGTGTGCCAAATCTGCCTTCACATTGGCTTTTTATTCTTGGAGTGGTTGGATTAGATTTTGGTTTGGGCTTTTTTCATTTATAATAATTCTAGAATGTCACATACTGTGAAATACTAAGTGTGGATGAGCGGCAAAGCTGCTTTAAAACTCACCTGTCAAGAAGCAAGAAGAGAGAAAGCTTACTCATGGAG... |
Task1_train_12557 | This variant lies on Chromosome 9 and affects the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Nicolaides-Baraitser syndrome | ATCCAGATTACCAAGAGCATGTAATCTGGATTTAGGTTTTAATTTCCCACCCCTCCCCATCCTAGCCTGTTTGATTGGCTATTTAAGCACGGGACCGAGTGATTTTATCGGCCATCAGCATTACAGGTCTGCACAGCCTGAACACTGCATAGTGAGTCTTGCTCATCATTATTCCTTAAGTGGCTCACAAAGGGGAAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTCTTTGATTTTTTCCTTATTCCATTTCCAAAAGATGATATATTCTTAAATCTTCCTTTTAAAAGCAGAACATA... | ATCCAGATTACCAAGAGCATGTAATCTGGATTTAGGTTTTAATTTCCCACCCCTCCCCATCCTAGCCTGTTTGATTGGCTATTTAAGCACGGGACCGAGTGATTTTATCGGCCATCAGCATTACAGGTCTGCACAGCCTGAACACTGCATAGTGAGTCTTGCTCATCATTATTCCTTAAGTGGCTCACAAAGGGGAAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTCTTTGATTTTTTCCTTATTCCATTTCCAAAAGATGATATATTCTTAAATCTTCCTTTTAAAAGCAGAACATA... |
Task1_train_12558 | The gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CTCCTAATTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAA... | CTCCTAATTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAA... |
Task1_train_12559 | A mutation found in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; SMARCA2-related BAFopathy | CTCCTAATTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAA... | CTCCTAATTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAA... |
Task1_train_12560 | This sequence variant lies in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Nicolaides-Baraitser syndrome | TTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATG... | TTTTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATG... |
Task1_train_12561 | This gene mutation involves SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nicolaides-Baraitser syndrome | TTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTG... | TTTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTG... |
Task1_train_12562 | This mutation is located in gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; SMARCA2-related BAFopathy | TTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGT... | TTATGTCCTAAGTTGTTCCTTAGCCACAAAGTAGAAATTTTTACTCCCATTTATATCATCTTGTCTTCTAATACGTTCATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGT... |
Task1_train_12563 | This genomic variant is located on Chromosome 9, within the SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nicolaides-Baraitser syndrome | ATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTT... | ATGTAGAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTT... |
Task1_train_12564 | Here is a mutation in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAG... | GAAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAG... |
Task1_train_12565 | The variant affects gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; SMARCA2-related BAFopathy | AAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAGT... | AAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAGT... |
Task1_train_12566 | This variant impacts the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Nicolaides-Baraitser syndrome | AAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAGT... | AAAGATGGAAGTGCTCTCTTTCGTGGAACAAATAATGAAAACTCTTTTTTTTCCTCTTTAGTAATTTTTTTTACCCCATGACGTTTTGAAAGCACTATAATCTGAAACTAAGTTATGTCCAAAATTGAATAGAACCTCTATTTCTGGGGTCTATTCTACCTCTGCATTAAACTCTTGCTCTGGGAACTGAGAGTTCCCTTCATGGCATCATAGGAAATAACAAAAAGGAAATGTGTTCCCAGGGGAGGTTTAATAATTGAGATGGCACTGGCAACAATGCTGTGTTCCACCTCCTCACACTCAGAGATGAATTTGGCAGT... |
Task1_train_12567 | This genomic variant is located on Chromosome 9, within the SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nicolaides-Baraitser syndrome | TTAATAGAAGGGGCATTGGATGGGGAGAGGCAGGATCCACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCT... | TTAATAGAAGGGGCATTGGATGGGGAGAGGCAGGATCCACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCT... |
Task1_train_12568 | The following genetic variant occurs in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nicolaides-Baraitser syndrome | GGAGAGGCAGGATCCACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCTCTTGTGTTATAGATTCGGTGGAA... | GGAGAGGCAGGATCCACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCTCTTGTGTTATAGATTCGGTGGAA... |
Task1_train_12569 | An alteration has been detected in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nicolaides-Baraitser syndrome | ACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCTCTTGTGTTATAGATTCGGTGGAAATACATGATAGTGGA... | ACACGTGGAAACAACCATGTCATTCTGGACCCAAATTTCCTTCTTTGTAAAAAGTTGATTTGGAATTACGTGGTCTGTAAGGAACATTGTTCCTTTAACATTCTATTATTATAGGATGTCTTATGCGGCCTATCAGGCATGAGACATTGTTGAGATTCCCTTGTCTCAAAGGTAATCACAGCATATCATATACCAAGGATGGGTTCTTTGGTTTTCCGCACCACCACTTGCTTGTTGGAAATAGTTGTATTTTCCCTTGCTTACTACACGTCCGTCCTTCCTCTTGTGTTATAGATTCGGTGGAAATACATGATAGTGGA... |
Task1_train_12570 | The gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Nicolaides-Baraitser syndrome | TGTAAGAAATGTTTTTCATTAGCAATGGATGTTAAAGAGAATCTTGACTTGCAACAACAAAAATGAACACTGCATTAACAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTTGCAAATTTGAAAAATTTATTATTAGGATGTAGTCATCATTTTTGGATCCCAAGGGCGGACAGTTTCACTGGGCTAAGAACCAGGAACTATAGCCTATCCTGAAGCAGTGCTGCTAAGCTTTCCCTACCTCTCCTTGCCTCTCTCTTCTCTGGGTTCTGTGGTTACTCCTGCTCCCATCAGCTTGGCCAGGGTTGCA... | TGTAAGAAATGTTTTTCATTAGCAATGGATGTTAAAGAGAATCTTGACTTGCAACAACAAAAATGAACACTGCATTAACAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTTGCAAATTTGAAAAATTTATTATTAGGATGTAGTCATCATTTTTGGATCCCAAGGGCGGACAGTTTCACTGGGCTAAGAACCAGGAACTATAGCCTATCCTGAAGCAGTGCTGCTAAGCTTTCCCTACCTCTCCTTGCCTCTCTCTTCTCTGGGTTCTGTGGTTACTCCTGCTCCCATCAGCTTGGCCAGGGTTGCA... |
Task1_train_12571 | A genetic alteration is present in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Nicolaides-Baraitser syndrome | CATTAACAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTTGCAAATTTGAAAAATTTATTATTAGGATGTAGTCATCATTTTTGGATCCCAAGGGCGGACAGTTTCACTGGGCTAAGAACCAGGAACTATAGCCTATCCTGAAGCAGTGCTGCTAAGCTTTCCCTACCTCTCCTTGCCTCTCTCTTCTCTGGGTTCTGTGGTTACTCCTGCTCCCATCAGCTTGGCCAGGGTTGCATGGTGAAAACACAGCTATAGGGTATTTGGAGAACAGTTCTCAGAGTGGAGGATGGATGTCGGGAAGACATAC... | CATTAACAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTTGCAAATTTGAAAAATTTATTATTAGGATGTAGTCATCATTTTTGGATCCCAAGGGCGGACAGTTTCACTGGGCTAAGAACCAGGAACTATAGCCTATCCTGAAGCAGTGCTGCTAAGCTTTCCCTACCTCTCCTTGCCTCTCTCTTCTCTGGGTTCTGTGGTTACTCCTGCTCCCATCAGCTTGGCCAGGGTTGCATGGTGAAAACACAGCTATAGGGTATTTGGAGAACAGTTCTCAGAGTGGAGGATGGATGTCGGGAAGACATAC... |
Task1_train_12572 | This mutation occurs in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ACTGGACAGAGCTGGCCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTT... | ACTGGACAGAGCTGGCCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTT... |
Task1_train_12573 | This variant impacts the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTC... | CCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTC... |
Task1_train_12574 | Given this context: Chromosome 9, gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Nicolaides-Baraitser syndrome | CCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTC... | CCAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTC... |
Task1_train_12575 | This variant lies on Chromosome 9 and affects the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... |
Task1_train_12576 | A variant was discovered on Chromosome 9, affecting SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Blepharophimosis-impaired intellectual development syndrome | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... |
Task1_train_12577 | A variant was discovered on Chromosome 9, affecting SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Nicolaides-Baraitser syndrome | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... | CAAAGTTCCTGAAAAACAACTGAAGTAACCATTACCATGGTGACGTATGCATGTTATCTGTAAAGTAGCCAGTGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCA... |
Task1_train_12578 | This alteration occurs within gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCA... | TGAAGGTCAAGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCA... |
Task1_train_12579 | Given this context: Chromosome 9, gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Nicolaides-Baraitser syndrome | AGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGC... | AGTTTGAGCATTCAGCAGCAAGACCTTCAGCTACTGCAGCCTTCAGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGC... |
Task1_train_12580 | A change on Chromosome 9 affects gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGCAGAGGAGAAATATGTGAACCATTAATACATGTAATTTTTAAAAA... | AGCTTCATGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGCAGAGGAGAAATATGTGAACCATTAATACATGTAATTTTTAAAAA... |
Task1_train_12581 | The gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGCAGAGGAGAAATATGTGAACCATTAATACATGTAATTTTTAAAAAAATTCTT... | TGGAAAAAGAGAAAACAAAAATAACAAAAAGCAAGAAACCAGAAGCATGCAGGGCAGGCAGACCTGATGAGATTAACTGTTCGGTTTCATTAATCCGTGTGATTATCAGCTGGTTCATTTTCAGTTAATCAAAACTGTTGAACTTCTATCCTGAGAGTATAGATGTATAGTTTTGTACCCAGTTTTCAGAAACACAGATGCCATGATCTCTTCTTTCCCCATTTTAGAAGAAATTTTTGGTTTCTGTGGCTTTTCATTCAGTTTAAGGCAGAGGAGAAATATGTGAACCATTAATACATGTAATTTTTAAAAAAATTCTT... |
Task1_train_12582 | The gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCTGCCCCCTGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTG... | GCTGCCCCCTGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTG... |
Task1_train_12583 | A genetic alteration is present in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGCCCCCTGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGAC... | TGCCCCCTGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGAC... |
Task1_train_12584 | Here is a genetic alteration in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Nicolaides-Baraitser syndrome | TGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTT... | TGCAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTT... |
Task1_train_12585 | This gene mutation involves SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nicolaides-Baraitser syndrome | CAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAG... | CAATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAG... |
Task1_train_12586 | Here is a mutation in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Nicolaides-Baraitser syndrome | AATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGC... | AATTAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGC... |
Task1_train_12587 | A genomic change on Chromosome 9 affects SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Nicolaides-Baraitser syndrome | TAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGG... | TAGTATTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGG... |
Task1_train_12588 | Gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGG... | TTTTTGTGGTTTTGTCAGCATCTTCTTGGACAAGGGTCAGCAATCTACTACTCGCGGGCTCGGTCTGACCTGCCCCTTGTTTTTGCACCCCCACAGGTGAAGAATGGTTTTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGG... |
Task1_train_12589 | A variant affecting Chromosome 9, within the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | TTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCC... | TTCACTTTTTAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCC... |
Task1_train_12590 | An alteration has been detected in SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability | TAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAA... | TAAAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAA... |
Task1_train_12591 | This variant impacts the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Nicolaides-Baraitser syndrome | AAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAAAA... | AAGTATAAATTAGAAAATGGTGGGGAAAAAGAGTATCAGCCTTCTGGTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAAAA... |
Task1_train_12592 | Located on Chromosome 9, this mutation impacts SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAAAATAATCTAATATAGATGGGTCCCAGCTGTTTTCATGGCTTAGCACTA... | GTGAGAACAGTTGTTCAATTTTTGCTTCTGGGCCAGACAGCATAGAACGTTTACTATTGCGCCCATTTTAGAGACTGTTGGCCTCTGTTCCAGGAGATAGTGAAAAGCCTCATGACACAGACCTTGTCATCTTGACTGCTGTTAGCAGGTCTGGTGAAGATATGTGGAGAGGGACGGTTGAACTAAAAGCTTAAAAAGGAACTTTAGGGTGTTTTAAAGTTCTTTGTCCCCTTTGGATTTGAATGATCCACCTTACATTCTCCTCTTTAGAAAATAATCTAATATAGATGGGTCCCAGCTGTTTTCATGGCTTAGCACTA... |
Task1_train_12593 | Consider this mutation in VLDLR (very low density lipoprotein receptor) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Cerebellar hypoplasia | TAACAATATTTGAGGTAAGATGTGTCTCACATCAAAGTGTGTACCTTTGAGCTACTATATCACTTTGAGAAGAAATAACAGACATAGCGGGAGGAGGGAAGAGCAGCTGAACATGGCTTGAGAAACTGCTTTCACTTAAAACCTGGTACAAATCAGACACTAAGTCCCAGAAGCACTCCACACCTAAACTTGATTCTTTTACAGTTTTATATCCAGTGTCCCAGTTCAGCATTCAGTAAACTTAGTCCATTAAATGAGAAGTAAATGATGATGACCTTAGAAATGGACTTGTGTTAATCCTGGATGTACATGCTAATTGT... | TAACAATATTTGAGGTAAGATGTGTCTCACATCAAAGTGTGTACCTTTGAGCTACTATATCACTTTGAGAAGAAATAACAGACATAGCGGGAGGAGGGAAGAGCAGCTGAACATGGCTTGAGAAACTGCTTTCACTTAAAACCTGGTACAAATCAGACACTAAGTCCCAGAAGCACTCCACACCTAAACTTGATTCTTTTACAGTTTTATATCCAGTGTCCCAGTTCAGCATTCAGTAAACTTAGTCCATTAAATGAGAAGTAAATGATGATGACCTTAGAAATGGACTTGTGTTAATCCTGGATGTACATGCTAATTGT... |
Task1_train_12594 | The gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | AAAAGCAAAGGTAGAAACATTCTGAATGTCTGTCATTAGGAAAGTGCTCAGTGGCTATTTTTAAAATAAGGTAGATATTTGTGTTCAAATATGAAAACATCTTTTATATGGCCAACTGGAAAAGGCAAAGTATATAGCATTCTATGATTTCTATTAATAATGAAGAGGTACTGAGATGATGGATAAAGGTAGGTATATTTTTGCTTGTATATGTTTAGAATATTTCTGGAAGGATAGCCAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTAC... | AAAAGCAAAGGTAGAAACATTCTGAATGTCTGTCATTAGGAAAGTGCTCAGTGGCTATTTTTAAAATAAGGTAGATATTTGTGTTCAAATATGAAAACATCTTTTATATGGCCAACTGGAAAAGGCAAAGTATATAGCATTCTATGATTTCTATTAATAATGAAGAGGTACTGAGATGATGGATAAAGGTAGGTATATTTTTGCTTGTATATGTTTAGAATATTTCTGGAAGGATAGCCAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTAC... |
Task1_train_12595 | This is a variant in KCNV2 (potassium voltage-gated channel modifier subfamily V member 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTAGGAAAGTGCTCAGTGGCTATTTTTAAAATAAGGTAGATATTTGTGTTCAAATATGAAAACATCTTTTATATGGCCAACTGGAAAAGGCAAAGTATATAGCATTCTATGATTTCTATTAATAATGAAGAGGTACTGAGATGATGGATAAAGGTAGGTATATTTTTGCTTGTATATGTTTAGAATATTTCTGGAAGGATAGCCAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTACTGTAATATGTCTTTTTACCTTTACAATTTTTTATC... | TTAGGAAAGTGCTCAGTGGCTATTTTTAAAATAAGGTAGATATTTGTGTTCAAATATGAAAACATCTTTTATATGGCCAACTGGAAAAGGCAAAGTATATAGCATTCTATGATTTCTATTAATAATGAAGAGGTACTGAGATGATGGATAAAGGTAGGTATATTTTTGCTTGTATATGTTTAGAATATTTCTGGAAGGATAGCCAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTACTGTAATATGTCTTTTTACCTTTACAATTTTTTATC... |
Task1_train_12596 | Consider a variant on Chromosome 9 in gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2). Determine its clinical classification and disease relevance. | Pathogenic; Cone dystrophy with supernormal rod response | CAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTACTGTAATATGTCTTTTTACCTTTACAATTTTTTATCATGAATGTGTATTAGCTATGCAAAATAAATTGAATAGAAAAACCAATTCCCTGCTCAAAGCAAATCCCTCCTGCTTCTCTCCTCCCCAGTATTTATTGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATT... | CAAAAGGTAGTAATAGTGGTTGCTTCCTTGAGGTACACCTGATGTCTTGAAATTATGGGTGGGAAAGACATAAACTTTCTACTGTAATATGTCTTTTTACCTTTACAATTTTTTATCATGAATGTGTATTAGCTATGCAAAATAAATTGAATAGAAAAACCAATTCCCTGCTCAAAGCAAATCCCTCCTGCTTCTCTCCTCCCCAGTATTTATTGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATT... |
Task1_train_12597 | A mutation in KCNV2 (potassium voltage-gated channel modifier subfamily V member 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTCTCTCCTCCCCAGTATTTATTGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATTGCCTTAATCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCT... | TTCTCTCCTCCCCAGTATTTATTGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATTGCCTTAATCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCT... |
Task1_train_12598 | A mutation on Chromosome 9 affecting KCNV2 (potassium voltage-gated channel modifier subfamily V member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAAAAAGGAGAGAGAGAAGCTGAAGCTGACTCAAAGATCCGACTGGACCTGAACAGTGCCCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAAGGAGATGGCTTTAGATCTTATATGCTCTAAACGAAGAGTTACGCTGAGAGGGAAACTGACTTGTCATGAAGTCAGCTTTGTTCCGTTGCTATGTGTCATCCCTGCTAATGGTGAGTT... | GTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAAAAAGGAGAGAGAGAAGCTGAAGCTGACTCAAAGATCCGACTGGACCTGAACAGTGCCCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAAGGAGATGGCTTTAGATCTTATATGCTCTAAACGAAGAGTTACGCTGAGAGGGAAACTGACTTGTCATGAAGTCAGCTTTGTTCCGTTGCTATGTGTCATCCCTGCTAATGGTGAGTT... |
Task1_train_12599 | The gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cone dystrophy with supernormal rod response | AGAACTTAAATAAAAAAAAGACACACCCACTCATGCAACCAAGAGGACTTTGAGATTAACCCACAATCTCACTTTATCACTGCCTCACATCACCCCTTGGTCCAGAAGTTGGGAGAAGGATATTCTCTACTGGAGCCAGAGGGCAGAGTCAGGGAGGAGCTTGTTTCCACAGCCTGAGGGTCTGATAAGCATAACGTATATAGAGTTGCTGGTGTAGAATGCACTCAATAAATGTTGGTCTTTGCCTCTTCTCAGTGGAGGCCAGCTTCAGCATGGGGGACCCTGGGATTGCATACATGATATATATATAATAATATTAT... | AGAACTTAAATAAAAAAAAGACACACCCACTCATGCAACCAAGAGGACTTTGAGATTAACCCACAATCTCACTTTATCACTGCCTCACATCACCCCTTGGTCCAGAAGTTGGGAGAAGGATATTCTCTACTGGAGCCAGAGGGCAGAGTCAGGGAGGAGCTTGTTTCCACAGCCTGAGGGTCTGATAAGCATAACGTATATAGAGTTGCTGGTGTAGAATGCACTCAATAAATGTTGGTCTTTGCCTCTTCTCAGTGGAGGCCAGCTTCAGCATGGGGGACCCTGGGATTGCATACATGATATATATATAATAATATTAT... |
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