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_4700 | A variant affecting Chromosome 2, within the gene SCN1A (sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe myoclonic epilepsy in infancy | AAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTAT... | AAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTAT... |
Task1_train_4701 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTG... | TTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTG... |
Task1_train_4702 | A genetic alteration is present in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4703 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Migraine, familial hemiplegic, 3 | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4704 | Chromosome 2 houses a mutation in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4705 | A variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4706 | This gene mutation involves SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy 6B | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4707 | This is a variant in SCN1A (sodium voltage-gated channel alpha subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Severe myoclonic epilepsy in infancy | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4708 | This variant lies on Chromosome 2 and affects the gene SCN1A (sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... | AGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAA... |
Task1_train_4709 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATT... | ATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATT... |
Task1_train_4710 | Mutation context: Chromosome 2, Gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACAT... | AGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACAT... |
Task1_train_4711 | This gene mutation involves SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... |
Task1_train_4712 | A variant found in Chromosome 2 affects SCN1A (sodium voltage-gated channel alpha subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... |
Task1_train_4713 | A variant has been detected on Chromosome 2 in SCN1A (sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... | AATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACATCTTATCCA... |
Task1_train_4714 | This genomic variant is located on Chromosome 2, within the SCN1A (sodium voltage-gated channel alpha subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCAC... | CTTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCAC... |
Task1_train_4715 | Chromosome 2 houses a mutation in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACT... | TTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACT... |
Task1_train_4716 | Given this context: Chromosome 2, gene SCN1A (sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGG... | ATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGG... |
Task1_train_4717 | A mutation in SCN1A (sodium voltage-gated channel alpha subunit 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCG... | TTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCG... |
Task1_train_4718 | Gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGA... | TATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGA... |
Task1_train_4719 | This alteration in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAA... | CAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAA... |
Task1_train_4720 | Given a variant located on Chromosome 2 and affecting SCN1A (sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe myoclonic epilepsy in infancy | TCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGAGAGGTGG... | TCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGAGAGGTGG... |
Task1_train_4721 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGAGAGGTGGGGCTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGTCTGGGCCACAGAGCGAGACTGCGTCTCA... | TTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGAGAGGTGGGGCTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGTCTGGGCCACAGAGCGAGACTGCGTCTCA... |
Task1_train_4722 | Consider a variant on Chromosome 2 in gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9). Determine its clinical classification and disease relevance. | Pathogenic; Paroxysmal extreme pain disorder | TCAAACAACTAACTGCATATCAGGAAGGATTTCATCAACTTTGCTTACAGCGAAAGGATGACTAAACAATACTGCATAAGAAAGCAGGAAAATTTGACAAAAGAGTTTAAGAGACTATTATCAGTATTTTGGGCAGCACAGTCAAATGTTAGGCTATGTAAATAATAGCAAATAGAACTTCTGTCAATAACTTTTTTCTCAGTTATCTTTGTTTTTTTTGAGGAGTGTAATATGTACTTAGAATAATTTTTCAAGTTCTGTGGTTATTCTATGAACAAAAAGGGATATGAAAGAAGAAAGGCTATGAAACACAATACTCT... | TCAAACAACTAACTGCATATCAGGAAGGATTTCATCAACTTTGCTTACAGCGAAAGGATGACTAAACAATACTGCATAAGAAAGCAGGAAAATTTGACAAAAGAGTTTAAGAGACTATTATCAGTATTTTGGGCAGCACAGTCAAATGTTAGGCTATGTAAATAATAGCAAATAGAACTTCTGTCAATAACTTTTTTCTCAGTTATCTTTGTTTTTTTTGAGGAGTGTAATATGTACTTAGAATAATTTTTCAAGTTCTGTGGTTATTCTATGAACAAAAAGGGATATGAAAGAAGAAAGGCTATGAAACACAATACTCT... |
Task1_train_4723 | A variant found in Chromosome 2 affects SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paroxysmal extreme pain disorder | CACTGAGCTTTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTA... | CACTGAGCTTTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTA... |
Task1_train_4724 | The variant affects gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Paroxysmal extreme pain disorder | CTTTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATA... | CTTTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATA... |
Task1_train_4725 | Given a variant located on Chromosome 2 and affecting SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | TTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAAT... | TTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAAT... |
Task1_train_4726 | A genetic alteration is present in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | TTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAAT... | TTTATATTTGAACAGTTTTATTTAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAAT... |
Task1_train_4727 | A genetic alteration is present in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Primary erythromelalgia | CAACCAGAGTATCTCAGTTAGTTGACAAGAAACTCCAGAATTAGACTCCTTTATCTCTTGCAAATCACAAGCAATACTGTAGATTCTACCCTCTAAAATGTTTTAATGGAACATATTTCCTATTCTCCATTGACACACAGGACTAATTTGGAGACTTAGTGTGGTCCAGGTGGCAGGTCAAGCAGGGTCTGAAATAGTCTTTGGTCCTTCCCTAGTCATTTTGTGCATCACTGCTAGATTAATTTTTTGTAAAGCTCAGTCTCTAGAAAAAGCAATTCTGGAGCTAGATCCATAATGAAACTACTTTTTAGCTGTCAGGC... | CAACCAGAGTATCTCAGTTAGTTGACAAGAAACTCCAGAATTAGACTCCTTTATCTCTTGCAAATCACAAGCAATACTGTAGATTCTACCCTCTAAAATGTTTTAATGGAACATATTTCCTATTCTCCATTGACACACAGGACTAATTTGGAGACTTAGTGTGGTCCAGGTGGCAGGTCAAGCAGGGTCTGAAATAGTCTTTGGTCCTTCCCTAGTCATTTTGTGCATCACTGCTAGATTAATTTTTTGTAAAGCTCAGTCTCTAGAAAAAGCAATTCTGGAGCTAGATCCATAATGAAACTACTTTTTAGCTGTCAGGC... |
Task1_train_4728 | The gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Channelopathy-associated congenital insensitivity to pain, autosomal recessive | AGGTAAACATAGGATTTAAGAAGCCATAGCATTGTTGAGGTTTAACATAATCACTCTTAACAATTTATTCAACATGTATTCATTACATACTTATTATTTAATTTATTACATACTTATGTAATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTT... | AGGTAAACATAGGATTTAAGAAGCCATAGCATTGTTGAGGTTTAACATAATCACTCTTAACAATTTATTCAACATGTATTCATTACATACTTATTATTTAATTTATTACATACTTATGTAATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTT... |
Task1_train_4729 | The variant affects gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | ATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATT... | ATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATT... |
Task1_train_4730 | Here is a mutation in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | ATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATT... | ATAAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATT... |
Task1_train_4731 | With a mutation on Chromosome 2 in gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Paroxysmal extreme pain disorder | AAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATTTT... | AAATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATTTT... |
Task1_train_4732 | Located on Chromosome 2, this mutation impacts SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Paroxysmal extreme pain disorder | AATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATTTTA... | AATAATATAATCTTCAAATAACTACAAAGGGCTTAATCATATGCATATTTGTGCTCATATTGGTAGGAAAATTCAATAACTAAGTGACATACTATGTATATGTTATTTCCAAAAGTACTGTAAATGAGACATTATCATATTTATACACATTTTGCCATGTATTTTCTTTTGATTCCGAATACATCTTTATTATATTTTGTAAAAATATTACCTAGGGAGTAATCATTAAAGTTTCTTAGCATGGAACTTATTTCACATAAACTCATCCAAGGTGTTTTAAACTGTAAAAACAGTAAAAGCTATACATTAAAATTATTTTA... |
Task1_train_4733 | Here is a genetic alteration in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Channelopathy-associated congenital insensitivity to pain, autosomal recessive | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... |
Task1_train_4734 | A mutation on Chromosome 2 affecting SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... |
Task1_train_4735 | Chromosome 2 houses a mutation in gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... | TAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAA... |
Task1_train_4736 | This alteration in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | AATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTT... | AATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTT... |
Task1_train_4737 | This genomic variant is located on Chromosome 2, within the SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | AATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTT... | AATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTT... |
Task1_train_4738 | This variant lies on Chromosome 2 and affects the gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Primary erythromelalgia | ATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTG... | ATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTG... |
Task1_train_4739 | Gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; SCN9A-related peripheral neuropathies associated with increased pain | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... |
Task1_train_4740 | Here is a genetic alteration in SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... |
Task1_train_4741 | This variant impacts the gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... | CATGTTTTCACAAGTTATACCTTTCCCAATTTCACGATTTTATGTCAAAATTTTGTAAGAAGAAATGCACAGCTGGGCGCAGTAGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCGACGGAGGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGCACGGTAGCATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGGGTGAGCCGAGATCACATCATTGCACTC... |
Task1_train_4742 | The gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | TTTCTTCTTTCTTTAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAA... | TTTCTTCTTTCTTTAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAA... |
Task1_train_4743 | Gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | TTTCTTCTTTCTTTAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAA... | TTTCTTCTTTCTTTAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAA... |
Task1_train_4744 | A variant was discovered in gene SCN1A-AS1, SCN9A (SCN1A and SCN9A antisense RNA 1| sodium voltage-gated channel alpha subunit 9), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; SCN9A-related disorder | TAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAAGCTCTATTGTATT... | TAGCACTTTTAGAGCTCAGTTTGGATGTTTCAGAAGAACTCTCTGAGAGGCCCATAATTCTGCTTCTCCTAATACTTGTATATTCAGCCGCTGCCGCTGCAATTGCCTGGTTGGGCCAAGACGTTAACACTTAAATGAGTCATTTCCAAATCCTAGGAAACCCTAGGACAGGACATCTTTCACCTATTAGCATAACAACATGGTGCATATAATCATGTCCTTTAAACATGAAATGATCGTTTTCTTTACACAATGATCAGAATGCTTACAAAGTATATATTTGGTTTTTGTCTCAGGTTGAAATAAAGCTCTATTGTATT... |
Task1_train_4745 | The gene SCN9A (sodium voltage-gated channel alpha subunit 9) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | TGTAAACAAATTGCATTCTAATCTATTAGTATATTCTTGTAACAAGTAGCTGTCTCAGCCAATCACAGCAGCTGAGCTTCAGCCAACCACAGCCTGCTGATTTATCAGACAATGTCCACATAAGGCAAATGTCAAGCTATAAGCAATCAAGCTGTTTTTGTGCGTCACTCCCTTTTTCTGTCTATAAATACTCCTGCTCATGTTGCTGAGTTGAGCTCTCCGAACTTCTCTTGGTTCTGAGTGCTGCCTAAATCATTATTATTATTATCTTATTTCAGCAATAAATACTATTTCATTGCTGAAATAAGCTGCTAAATTTA... | TGTAAACAAATTGCATTCTAATCTATTAGTATATTCTTGTAACAAGTAGCTGTCTCAGCCAATCACAGCAGCTGAGCTTCAGCCAACCACAGCCTGCTGATTTATCAGACAATGTCCACATAAGGCAAATGTCAAGCTATAAGCAATCAAGCTGTTTTTGTGCGTCACTCCCTTTTTCTGTCTATAAATACTCCTGCTCATGTTGCTGAGTTGAGCTCTCCGAACTTCTCTTGGTTCTGAGTGCTGCCTAAATCATTATTATTATTATCTTATTTCAGCAATAAATACTATTTCATTGCTGAAATAAGCTGCTAAATTTA... |
Task1_train_4746 | A variant was discovered in gene SCN9A (sodium voltage-gated channel alpha subunit 9), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 7 | TGTAAACAAATTGCATTCTAATCTATTAGTATATTCTTGTAACAAGTAGCTGTCTCAGCCAATCACAGCAGCTGAGCTTCAGCCAACCACAGCCTGCTGATTTATCAGACAATGTCCACATAAGGCAAATGTCAAGCTATAAGCAATCAAGCTGTTTTTGTGCGTCACTCCCTTTTTCTGTCTATAAATACTCCTGCTCATGTTGCTGAGTTGAGCTCTCCGAACTTCTCTTGGTTCTGAGTGCTGCCTAAATCATTATTATTATTATCTTATTTCAGCAATAAATACTATTTCATTGCTGAAATAAGCTGCTAAATTTA... | TGTAAACAAATTGCATTCTAATCTATTAGTATATTCTTGTAACAAGTAGCTGTCTCAGCCAATCACAGCAGCTGAGCTTCAGCCAACCACAGCCTGCTGATTTATCAGACAATGTCCACATAAGGCAAATGTCAAGCTATAAGCAATCAAGCTGTTTTTGTGCGTCACTCCCTTTTTCTGTCTATAAATACTCCTGCTCATGTTGCTGAGTTGAGCTCTCCGAACTTCTCTTGGTTCTGAGTGCTGCCTAAATCATTATTATTATTATCTTATTTCAGCAATAAATACTATTTCATTGCTGAAATAAGCTGCTAAATTTA... |
Task1_train_4747 | Here’s a variant in SCN9A (sodium voltage-gated channel alpha subunit 9) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Primary erythromelalgia | AGACAGAAAGTACAATCTTGATCATATCTTCATCCAATATTCATCAACCGTTCCAGTGAGAGACACCATGCTAGGGGATAATTGTTTAGAGAACATTCAATTCATGCTTTATGTAAGAAACTCTAATTGATACTTCTGAATTAAGCAGACTTCTGAGAGTGCATACAGATGATCTCATGTGGTACCTACAGAAATAATTCTACTGAACTAAACTTTGATATCTTGCCATCAGCCTATATTGAAGGAAGCCATTAAAAACAGCTATGAAACTCGTCATTGGTTACAAAGTGGATGTTGATAAAGCTGAGCAAATGATTTTG... | AGACAGAAAGTACAATCTTGATCATATCTTCATCCAATATTCATCAACCGTTCCAGTGAGAGACACCATGCTAGGGGATAATTGTTTAGAGAACATTCAATTCATGCTTTATGTAAGAAACTCTAATTGATACTTCTGAATTAAGCAGACTTCTGAGAGTGCATACAGATGATCTCATGTGGTACCTACAGAAATAATTCTACTGAACTAAACTTTGATATCTTGCCATCAGCCTATATTGAAGGAAGCCATTAAAAACAGCTATGAAACTCGTCATTGGTTACAAAGTGGATGTTGATAAAGCTGAGCAAATGATTTTG... |
Task1_train_4748 | The gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | TGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... | TGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... |
Task1_train_4749 | Here is a genetic alteration in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive familial intrahepatic cholestasis | TGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... | TGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... |
Task1_train_4750 | A variant was discovered on Chromosome 2, affecting ABCB11 (ATP binding cassette subfamily B member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | GGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAG... | GGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAG... |
Task1_train_4751 | This alteration occurs within gene ABCB11 (ATP binding cassette subfamily B member 11) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | GCCGCCTTTAGTTCTATGTCATTCTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAG... | GCCGCCTTTAGTTCTATGTCATTCTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAG... |
Task1_train_4752 | This mutation is located in gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | GCCGCCTTTAGTTCTATGTCATTCTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAG... | GCCGCCTTTAGTTCTATGTCATTCTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAG... |
Task1_train_4753 | This alteration in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | CTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTC... | CTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTC... |
Task1_train_4754 | The gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | CTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTC... | CTGTGGTGTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTC... |
Task1_train_4755 | Given this context: Chromosome 2, gene ABCB11 (ATP binding cassette subfamily B member 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | GTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTCTGCCTCC... | GTTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTCTGCCTCC... |
Task1_train_4756 | Here is a variant affecting ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... |
Task1_train_4757 | Located on Chromosome 2, this mutation impacts ABCB11 (ATP binding cassette subfamily B member 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... |
Task1_train_4758 | This variant affects gene ABCB11 (ATP binding cassette subfamily B member 11) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive familial intrahepatic cholestasis | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... | AATGTACATGTTAATGTTGGAAAAGTAAATATGAGGGATTCAGTTTCCTGTACCTTGCATAGTTCACAATCTATGTTGGCTGCAGGCATGCCAGAAGTGACATTTTGGAAAATTGAACCCTCTGACTTATCAGAATTATACCTCTGGTTACAATGGGCTTTCTAGGTTTATTGGTTACCAAATACTTTCAAACAAATTTACAATCTTTATACCTCAACTTAATAACAGAAGGGATTATAAATTATAGGCAATCAATACTTAGTCCTTATTTTTATAACTTCCTGGATTCTGTCAATTTCTGTTTGCTTGTTTCCTTGCTT... |
Task1_train_4759 | The gene ABCB11 (ATP binding cassette subfamily B member 11) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Abnormal liver function tests during pregnancy | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... |
Task1_train_4760 | A variant on Chromosome 2 in gene ABCB11 (ATP binding cassette subfamily B member 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intrahepatic cholestasis | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... |
Task1_train_4761 | Gene ABCB11 (ATP binding cassette subfamily B member 11), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pruritus | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... |
Task1_train_4762 | Gene ABCB11 (ATP binding cassette subfamily B member 11), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... | AATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCATAGAAACGTTCCAACAGCTGAATGCTA... |
Task1_train_4763 | The gene ABCB11 (ATP binding cassette subfamily B member 11) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... |
Task1_train_4764 | A variant has been detected on Chromosome 2 in ABCB11 (ATP binding cassette subfamily B member 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... |
Task1_train_4765 | Located on Chromosome 2, this mutation impacts ABCB11 (ATP binding cassette subfamily B member 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... |
Task1_train_4766 | This genomic variant is located on Chromosome 2, within the ABCB11 (ATP binding cassette subfamily B member 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... | ATAGGTATATAAAAGATAATGATTGATGATATAAGCATCATTTTTGCACCAGGCATGTATATAATTTATGCTTCAGAGAGCAAGACAGATGCAATTGCCTGTCTCCTTCTACTTGTCTTAGCCTCTAACTATAGTCAACATGTACTTAATTAACGAAAGAGTGAATGAATAAATGAATGATAAATATAATGAGAGATAACTTTGTTGCTGTAGAGATTATGATGTGAGTAGTAGCCCCCAAAGCTGCTCACCTGCACTGTCATGCACAGAGGGTCTGCCTGGGATGGGGATAGGGATAAGGGATGTGTCTTTGTGTGTCA... |
Task1_train_4767 | Here’s a variant in ABCB11 (ATP binding cassette subfamily B member 11) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Progressive familial intrahepatic cholestasis | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... |
Task1_train_4768 | A change on Chromosome 2 affects gene ABCB11 (ATP binding cassette subfamily B member 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... |
Task1_train_4769 | A mutation found in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... | TCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACCTCCCACCAGGTTCTTCCTTCAACA... |
Task1_train_4770 | Assess the clinical impact of this variant on gene ABCB11 (ATP binding cassette subfamily B member 11), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... |
Task1_train_4771 | Gene ABCB11 (ATP binding cassette subfamily B member 11), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... |
Task1_train_4772 | Given this context: Chromosome 2, gene ABCB11 (ATP binding cassette subfamily B member 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... |
Task1_train_4773 | A variant on Chromosome 2 in gene ABCB11 (ATP binding cassette subfamily B member 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Progressive familial intrahepatic cholestasis | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... | AGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGTTGTACCTGAGATATTCTCTGAGGATTA... |
Task1_train_4774 | Here’s a variant in ABCB11 (ATP binding cassette subfamily B member 11) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | GATTTAAACTTTTACATGTGTAGCTTTTGGAAACAAATTACAACTTTCTTCTGTTCAACTGTGAGGAAGATTGTAGTCAGCTAATATTTTCTAAACAATCAGACTAGATGCATGAACCCATGTAGTATCAACTACTCCCATCCCTCCCACCCCACAAGGAGCTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATG... | GATTTAAACTTTTACATGTGTAGCTTTTGGAAACAAATTACAACTTTCTTCTGTTCAACTGTGAGGAAGATTGTAGTCAGCTAATATTTTCTAAACAATCAGACTAGATGCATGAACCCATGTAGTATCAACTACTCCCATCCCTCCCACCCCACAAGGAGCTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATG... |
Task1_train_4775 | The gene ABCB11 (ATP binding cassette subfamily B member 11), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | GATTTAAACTTTTACATGTGTAGCTTTTGGAAACAAATTACAACTTTCTTCTGTTCAACTGTGAGGAAGATTGTAGTCAGCTAATATTTTCTAAACAATCAGACTAGATGCATGAACCCATGTAGTATCAACTACTCCCATCCCTCCCACCCCACAAGGAGCTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATG... | GATTTAAACTTTTACATGTGTAGCTTTTGGAAACAAATTACAACTTTCTTCTGTTCAACTGTGAGGAAGATTGTAGTCAGCTAATATTTTCTAAACAATCAGACTAGATGCATGAACCCATGTAGTATCAACTACTCCCATCCCTCCCACCCCACAAGGAGCTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATG... |
Task1_train_4776 | A variant has been detected on Chromosome 2 in ABCB11 (ATP binding cassette subfamily B member 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGT... | CTGCCTTTCCTGCAGCAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGT... |
Task1_train_4777 | The gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... |
Task1_train_4778 | This gene mutation involves ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... |
Task1_train_4779 | The gene ABCB11 (ATP binding cassette subfamily B member 11), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... |
Task1_train_4780 | A sequence alteration has been identified in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... |
Task1_train_4781 | Given a variant located on Chromosome 2 and affecting ABCB11 (ATP binding cassette subfamily B member 11), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cholestasis, progressive familial intrahepatic, 4 | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... | CAGCACAAGCATTTCCACATGGACCTGTAAAATGGACTAAGACTTCCACAAACCTTACTCAGCACTTCTTGCACCATGGCTTCACTCTCATTGTCCAGAGCTGAGGTGGCCATGTCCAAAAGCAGAATCTTGGGATTTCGGATGAGGGCTCTGGCGATAGCTACCCTTTGTTTCTGGCCACCACTCATCTGGCCTCCTCCTTCTCCAACAAGGGTGTCAAATTGCTAGATGGAAGGTGACACCAGTCATGAAGGGAAAAGAATTTGATGGCTTCTGACAGTGATCCACTATAATGTCCTTTCTGTCATAGTTTTCTTCTC... |
Task1_train_4782 | With a mutation on Chromosome 2 in gene ABCB11 (ATP binding cassette subfamily B member 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... |
Task1_train_4783 | Gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... |
Task1_train_4784 | This gene mutation involves ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... |
Task1_train_4785 | Here is a genetic alteration in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... | TGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAG... |
Task1_train_4786 | The variant affects gene ABCB11 (ATP binding cassette subfamily B member 11), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... |
Task1_train_4787 | With a mutation on Chromosome 2 in gene ABCB11 (ATP binding cassette subfamily B member 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... |
Task1_train_4788 | Gene ABCB11 (ATP binding cassette subfamily B member 11), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... |
Task1_train_4789 | This alteration occurs within gene ABCB11 (ATP binding cassette subfamily B member 11) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Progressive familial intrahepatic cholestasis | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... | GAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCTAAGCCACTG... |
Task1_train_4790 | A mutation in ABCB11 (ATP binding cassette subfamily B member 11), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... |
Task1_train_4791 | A mutation in ABCB11 (ATP binding cassette subfamily B member 11), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... |
Task1_train_4792 | This alteration in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... |
Task1_train_4793 | Here is a variant affecting ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... |
Task1_train_4794 | The variant affects gene ABCB11 (ATP binding cassette subfamily B member 11), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Progressive familial intrahepatic cholestasis | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... | CACTTGATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCAC... |
Task1_train_4795 | This mutation is located in gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... |
Task1_train_4796 | A variant was discovered on Chromosome 2, affecting ABCB11 (ATP binding cassette subfamily B member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive familial intrahepatic cholestasis | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... |
Task1_train_4797 | The gene ABCB11 (ATP binding cassette subfamily B member 11) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... |
Task1_train_4798 | Consider this mutation in ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Progressive familial intrahepatic cholestasis type 2 | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... |
Task1_train_4799 | This mutation is located in gene ABCB11 (ATP binding cassette subfamily B member 11) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Benign recurrent intrahepatic cholestasis type 2 | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... | AAGATTGTTGTAAAGATTAGAGATAATGACTATTAAGCTCCTAGTAGTGCCTAGAGAAACAGTGAATGCTCAATAAATGTAATTGCTGTTAATAAAACAATATTTACCTATTAAAACATCATTAATCCCTATTCGATGAAATGTCATTTGACACTGGGGAGTAATCTAACAAACTACATGAAGATAGTGATAATTATGTTGCTAACTGTACTCAGGAAAAGGGACTCAAGCTTCACATTTTTGGCTGTTTATGAAGGCAAATGTCTTCCCATGGAGAGATGCAAAAAGACATTCTTACCAGACCAATGGTGGCTGCTCCA... |
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