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_6600 | A variant affecting Chromosome 3, within the gene SCN5A (sodium voltage-gated channel alpha subunit 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiovascular phenotype | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
Task1_train_6601 | An alteration has been detected in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiac arrhythmia | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
Task1_train_6602 | This variant lies on Chromosome 3 and affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiovascular phenotype | TTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTG... | TTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTG... |
Task1_train_6603 | With a mutation on Chromosome 3 in gene SCN5A (sodium voltage-gated channel alpha subunit 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiovascular phenotype | TTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTC... | TTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTC... |
Task1_train_6604 | This alteration in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiovascular phenotype | TTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTCCCAGCATCT... | TTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTCCCAGCATCT... |
Task1_train_6605 | Here is a genetic alteration in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGGAGTTTTAAGGGGCATGGATATAAATCATGGAATAAAGAGTGAAATAAACTTGTCTTATATGGCCCAAGTGCCCTTTCCAGACTCCTTATATAATAATGTCACTGACTGACATGGGTCCAGTGTTTACGATCACTGGGGCAATGGGCCGAGCACTTTATAGCCATCATTTCATTTAGTCCTTCCCATTGTCCTAGGAAGTGAGCAGATGCCATCATCCTTATCTTCCAGAAGAGGAAACAGAGGTGAGGTAACTTACCCAAGTTGCCACCTAGTGAGTGAGAAGCTGGGATTTGACTCAGACGTTCGGGCTCCAAGTT... | TGGAGTTTTAAGGGGCATGGATATAAATCATGGAATAAAGAGTGAAATAAACTTGTCTTATATGGCCCAAGTGCCCTTTCCAGACTCCTTATATAATAATGTCACTGACTGACATGGGTCCAGTGTTTACGATCACTGGGGCAATGGGCCGAGCACTTTATAGCCATCATTTCATTTAGTCCTTCCCATTGTCCTAGGAAGTGAGCAGATGCCATCATCCTTATCTTCCAGAAGAGGAAACAGAGGTGAGGTAACTTACCCAAGTTGCCACCTAGTGAGTGAGAAGCTGGGATTTGACTCAGACGTTCGGGCTCCAAGTT... |
Task1_train_6606 | This alteration occurs within gene SCN5A (sodium voltage-gated channel alpha subunit 5) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Long QT syndrome 3 | GGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTAGCCTCCACAGCACCCACTCCCATTCCCAGACTCATCCTTGAAGCTCTCTAAGCAGTTAGAGAACTGTGTTCCCAG... | GGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTAGCCTCCACAGCACCCACTCCCATTCCCAGACTCATCCTTGAAGCTCTCTAAGCAGTTAGAGAACTGTGTTCCCAG... |
Task1_train_6607 | This variant impacts the gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CATGGTCACCATATTCAAGCAGATCAGAAACATGATGGTGACGTCAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGCCCATCCCCAGAG... | CATGGTCACCATATTCAAGCAGATCAGAAACATGATGGTGACGTCAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGCCCATCCCCAGAG... |
Task1_train_6608 | A variant was discovered in gene SCN5A (sodium voltage-gated channel alpha subunit 5), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital long QT syndrome | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6609 | A mutation on Chromosome 3 affecting SCN5A (sodium voltage-gated channel alpha subunit 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Atrial fibrillation, familial, 10 | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6610 | Assess the clinical impact of this variant on gene SCN5A (sodium voltage-gated channel alpha subunit 5), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; SUDDEN INFANT DEATH SYNDROME | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6611 | With a mutation on Chromosome 3 in gene SCN5A (sodium voltage-gated channel alpha subunit 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ventricular fibrillation, paroxysmal familial, type 1 | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6612 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Sick sinus syndrome 1 | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6613 | Here is a variant affecting SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome 3 | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6614 | A variant found in Chromosome 3 affects SCN5A (sodium voltage-gated channel alpha subunit 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Brugada syndrome 1 | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6615 | A genetic alteration is present in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Dilated cardiomyopathy 1E | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6616 | This sequence change occurs on Chromosome 3, altering SCN5A (sodium voltage-gated channel alpha subunit 5). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Progressive familial heart block, type 1A | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6617 | This variant affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardiovascular phenotype | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... | TTTTTATAATGGCTGTATTTAATAAACAGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAA... |
Task1_train_6618 | This is a variant in SCN5A (sodium voltage-gated channel alpha subunit 5), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | AAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAG... | AAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAG... |
Task1_train_6619 | The following genetic variant occurs in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Long QT syndrome | AAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAG... | AAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAG... |
Task1_train_6620 | With a mutation on Chromosome 3 in gene SCN5A (sodium voltage-gated channel alpha subunit 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGT... | AGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGT... |
Task1_train_6621 | A genomic change on Chromosome 3 affects SCN5A (sodium voltage-gated channel alpha subunit 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGTATGAGCTACCATGCCTGG... | GGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGTATGAGCTACCATGCCTGG... |
Task1_train_6622 | Chromosome 3 houses a mutation in gene SCN5A (sodium voltage-gated channel alpha subunit 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... |
Task1_train_6623 | Here is a mutation in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Brugada syndrome | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... |
Task1_train_6624 | The following genetic variant occurs in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... |
Task1_train_6625 | Chromosome 3 houses a mutation in gene SCN5A (sodium voltage-gated channel alpha subunit 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiac arrhythmia | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... |
Task1_train_6626 | This variant impacts the gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Long QT syndrome 3 | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... | ATTGATTATGCTGATTGTTTGTAGCCACCTTCCTCCATGTGGGGAAGAGTTTTTATTTTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCT... |
Task1_train_6627 | This is a variant in SCN5A (sodium voltage-gated channel alpha subunit 5), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Brugada syndrome 1 | AAAACCTCTCTGTGAGCTGATGTGACTGCACTGCCCACGACAGAGACATACAGCTACAGGTGCGAGCCAGACAATGCAGGTATGCTTCTTGAGCATGTGTGGGCCAACTGTGTACCCAGCAAGGTGGCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGC... | AAAACCTCTCTGTGAGCTGATGTGACTGCACTGCCCACGACAGAGACATACAGCTACAGGTGCGAGCCAGACAATGCAGGTATGCTTCTTGAGCATGTGTGGGCCAACTGTGTACCCAGCAAGGTGGCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGC... |
Task1_train_6628 | A sequence alteration has been identified in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; not provided | TTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAG... | TTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAG... |
Task1_train_6629 | Consider this mutation in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAGGTCAGCTCCAAAATCTCTTCCAGAAAGATTTCCTTGATTTTCCTA... | GTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAGGTCAGCTCCAAAATCTCTTCCAGAAAGATTTCCTTGATTTTCCTA... |
Task1_train_6630 | Given this context: Chromosome 3, gene SCN5A (sodium voltage-gated channel alpha subunit 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Long QT syndrome 3 | GTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAGGTCAGCTCCAAAATCTCTTCCAGAAAGATTTCCTTGATTTTCCTA... | GTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGTTTATCAGGTCAGCTCCAAAATCTCTTCCAGAAAGATTTCCTTGATTTTCCTA... |
Task1_train_6631 | A sequence alteration has been identified in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Cardiac arrhythmia | GATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATGGTCTCGATCCACTCTCCACAGAGGATGCGGAAGATGATGAGGAA... | GATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATGGTCTCGATCCACTCTCCACAGAGGATGCGGAAGATGATGAGGAA... |
Task1_train_6632 | This variant lies on Chromosome 3 and affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiovascular phenotype | ATGAATTGTTTATTTCTGGAATTTTCTATTTAATATTTTCACGTCATGGGTGACCATGGGTAACTGAAACCATGTTTCCATGGTTTCAAAATTGTGGATAAGAGGAACTACTGTACTTTCTCATGCACTTAGCTATGTAATTCAAAGGATGTTTCCTGTATTTTAAATTGTTTATTAATAGGAGACTTTTCAGATTTTCTTGTCCATAATGTTGCTGGAAACAGAAGTTTCATTTGCCTTTTACTTTTATTTGTGTGATGGGCTAAAAAGTTAGCTAAATCTATCAGTCTTCTCCTTTGTGGAATTTGTCTTCAGAGACA... | ATGAATTGTTTATTTCTGGAATTTTCTATTTAATATTTTCACGTCATGGGTGACCATGGGTAACTGAAACCATGTTTCCATGGTTTCAAAATTGTGGATAAGAGGAACTACTGTACTTTCTCATGCACTTAGCTATGTAATTCAAAGGATGTTTCCTGTATTTTAAATTGTTTATTAATAGGAGACTTTTCAGATTTTCTTGTCCATAATGTTGCTGGAAACAGAAGTTTCATTTGCCTTTTACTTTTATTTGTGTGATGGGCTAAAAAGTTAGCTAAATCTATCAGTCTTCTCCTTTGTGGAATTTGTCTTCAGAGACA... |
Task1_train_6633 | A variant was discovered in gene SCN5A (sodium voltage-gated channel alpha subunit 5), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiac conduction defect, nonprogressive | TCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTTGCAAATGACCCTGTCTTGGCCTGCTAATCCCTTTAAGGTTACAAATGGGCCCCACAGAAGTGAGAATGGGTGAAGTCAGAATTCCTGGTAATGAAGTGCTTGAACTTGGATTCCTCCCGACATGTGCAGTACAATGAGATGATTTTCTCCTTAATGAGATTAGGAAATTCTATTAGCGCTCCCAGCTGCTGACCCGATTCCATGAGGCTGAGGCTCCAGGGCTGAACCTGCCTGGTTCAGTGTTCCTGGAAACTAGACACCCCACCCTTCAGATGGG... | TCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTTGCAAATGACCCTGTCTTGGCCTGCTAATCCCTTTAAGGTTACAAATGGGCCCCACAGAAGTGAGAATGGGTGAAGTCAGAATTCCTGGTAATGAAGTGCTTGAACTTGGATTCCTCCCGACATGTGCAGTACAATGAGATGATTTTCTCCTTAATGAGATTAGGAAATTCTATTAGCGCTCCCAGCTGCTGACCCGATTCCATGAGGCTGAGGCTCCAGGGCTGAACCTGCCTGGTTCAGTGTTCCTGGAAACTAGACACCCCACCCTTCAGATGGG... |
Task1_train_6634 | This variant affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Long QT syndrome 3 | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... |
Task1_train_6635 | A variant affecting Chromosome 3, within the gene SCN5A (sodium voltage-gated channel alpha subunit 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Long QT syndrome | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... |
Task1_train_6636 | A mutation found in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... | GTGAAAATGCTCCCGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACT... |
Task1_train_6637 | A variant affecting Chromosome 3, within the gene SCN5A (sodium voltage-gated channel alpha subunit 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiovascular phenotype | CGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACTTAACTGGGCTTGG... | CGCGGCTGGAACGTGGCTTCATAGAAGTCCTGCTGAGGCCACGGGTGAGGCTGAGATGATTCTAAGGGCATGAGGAGAGGGGACACGACCATGACATGTGCTCTTCATGTGCTCCCAGCCTGTCTTTTGTGCCACTGGCCTCAGCTAAACTTCTCAGAGCATTGAGGGCTTTTTTGGCCACACAGGAACCAGGTGGGTTGGGCCGGGGGTATTTGGAAGAGGGGATGTGGGGTTAGAGATAATCCTGTATCTTCTGGGATGTCTACTCCCCTCAAATCTATGTCTCTGGAGCTGGGAGCCTGAAACTTAACTGGGCTTGG... |
Task1_train_6638 | Located on Chromosome 3, this mutation impacts SCN5A (sodium voltage-gated channel alpha subunit 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Brugada syndrome 1 | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... |
Task1_train_6639 | Here is a genetic alteration in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiac arrhythmia | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... |
Task1_train_6640 | This mutation is located in gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... |
Task1_train_6641 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Brugada syndrome | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... | GGGCCTAGCATGATGGGATTTTCATGCCAGACCCACCCTGGAAAAGCTAGAACCACAGCTGGGATTACCATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGG... |
Task1_train_6642 | A mutation found in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ACTCAGCTCAGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTC... | ACTCAGCTCAGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTC... |
Task1_train_6643 | A mutation found in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dilated cardiomyopathy 1E | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6644 | Gene SCN5A (sodium voltage-gated channel alpha subunit 5), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Long QT syndrome 3 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6645 | A variant was discovered on Chromosome 3, affecting SCN5A (sodium voltage-gated channel alpha subunit 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Ventricular fibrillation, paroxysmal familial, type 1 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6646 | This alteration in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Brugada syndrome 1 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6647 | A change on Chromosome 3 affects gene SCN5A (sodium voltage-gated channel alpha subunit 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Dilated cardiomyopathy 1E | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6648 | This variant lies on Chromosome 3 and affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atrial fibrillation, familial, 10 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6649 | A mutation in SCN5A (sodium voltage-gated channel alpha subunit 5), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Long QT syndrome 3 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6650 | This mutation occurs in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Sick sinus syndrome 1 | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6651 | Consider this mutation in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Progressive familial heart block, type 1A | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6652 | This variant affects gene SCN5A (sodium voltage-gated channel alpha subunit 5) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; SUDDEN INFANT DEATH SYNDROME | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... | AGAGGACACCTCCTCCCGAGGGCCTTCCATAATGCCGACCATGGCATTTTTCTATTGGCCACTTTCAGAGCCTGCTGGCTCACTAGGTTGCTGGCAGCTGCGAAGAGGTCCCATGGAGCTAGGCTGAGATTGGTGGGCTTCCTCCTTTTCCCCAGGACCGAGAAATATTTCCCTTTGTAAATCTTTCTTATAAAACACACCAGGAATATGCCTTAAGTCCTGTGGTTAGTGTGTTTGTCTACTTCGGTGGGGTGTGTGCCTGTGAGGCTCTCCCCAGGGCCCTAGAGGACAGACCATGTGGTTTCTGAGTCTATGTGTGC... |
Task1_train_6653 | Given a variant located on Chromosome 3 and affecting SCN5A (sodium voltage-gated channel alpha subunit 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TTCAAATGTCATACATCCCAAACTGGACTTTTGATTTTCTTCCTACTTCAGCCAGTGTCGCTCTCTCCAATTTTCCATTTCAACCAATGGGAACACCGTCCACCTAGCAGCTGCTCAAACCAAAAACCACCTTGGGGGGCCTCCTGTCAGCCCTACCTGCAAAGTATGTCCAGAATCTGACCAGGTGCTCCCCTTCTCCACTTGGTCCTTGGTTCCAGTCACTATCTTCTGTCTCCTGGCTTCCAAGATATAGCCTCCTAACTACTCCGTCTGTCTCTACCTTCTCCAGTCTGTGGTCCACACCATAGCCAGGGGAGTCT... | TTCAAATGTCATACATCCCAAACTGGACTTTTGATTTTCTTCCTACTTCAGCCAGTGTCGCTCTCTCCAATTTTCCATTTCAACCAATGGGAACACCGTCCACCTAGCAGCTGCTCAAACCAAAAACCACCTTGGGGGGCCTCCTGTCAGCCCTACCTGCAAAGTATGTCCAGAATCTGACCAGGTGCTCCCCTTCTCCACTTGGTCCTTGGTTCCAGTCACTATCTTCTGTCTCCTGGCTTCCAAGATATAGCCTCCTAACTACTCCGTCTGTCTCTACCTTCTCCAGTCTGTGGTCCACACCATAGCCAGGGGAGTCT... |
Task1_train_6654 | A variant has been detected on Chromosome 3 in SCN11A (sodium voltage-gated channel alpha subunit 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary sensory and autonomic neuropathy type 7 | TATTAAAATGTTATACTAGAAAATATTTACTTAATGCAAGTGAAGCAGTAGAGAAATAATAAAGGAAAAAACATGGAAGACATATAGAAGACAAACAGGAAAATATGAGAAGTAAATAAACTGAATTAACAACAGCATTAAATATGAATGGTTTAACCAATCCAATCAGAAGGCAGAGATTGCCAGAATAGATAAGAAAACAAGATCCAATTATACACTGTCTGCAGAGGACACATTTTGGGTTCAAAGATATAAATAGATTGAAAATAAAAGGATGGAAAAAGACATGTTATGCAAACAGCAACCATAAAAGAAGCTGG... | TATTAAAATGTTATACTAGAAAATATTTACTTAATGCAAGTGAAGCAGTAGAGAAATAATAAAGGAAAAAACATGGAAGACATATAGAAGACAAACAGGAAAATATGAGAAGTAAATAAACTGAATTAACAACAGCATTAAATATGAATGGTTTAACCAATCCAATCAGAAGGCAGAGATTGCCAGAATAGATAAGAAAACAAGATCCAATTATACACTGTCTGCAGAGGACACATTTTGGGTTCAAAGATATAAATAGATTGAAAATAAAAGGATGGAAAAAGACATGTTATGCAAACAGCAACCATAAAAGAAGCTGG... |
Task1_train_6655 | Located on Chromosome 3, this mutation impacts SCN11A (sodium voltage-gated channel alpha subunit 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial episodic pain syndrome with predominantly lower limb involvement | GTTATACTAGAAAATATTTACTTAATGCAAGTGAAGCAGTAGAGAAATAATAAAGGAAAAAACATGGAAGACATATAGAAGACAAACAGGAAAATATGAGAAGTAAATAAACTGAATTAACAACAGCATTAAATATGAATGGTTTAACCAATCCAATCAGAAGGCAGAGATTGCCAGAATAGATAAGAAAACAAGATCCAATTATACACTGTCTGCAGAGGACACATTTTGGGTTCAAAGATATAAATAGATTGAAAATAAAAGGATGGAAAAAGACATGTTATGCAAACAGCAACCATAAAAGAAGCTGGGATGACTCT... | GTTATACTAGAAAATATTTACTTAATGCAAGTGAAGCAGTAGAGAAATAATAAAGGAAAAAACATGGAAGACATATAGAAGACAAACAGGAAAATATGAGAAGTAAATAAACTGAATTAACAACAGCATTAAATATGAATGGTTTAACCAATCCAATCAGAAGGCAGAGATTGCCAGAATAGATAAGAAAACAAGATCCAATTATACACTGTCTGCAGAGGACACATTTTGGGTTCAAAGATATAAATAGATTGAAAATAAAAGGATGGAAAAAGACATGTTATGCAAACAGCAACCATAAAAGAAGCTGGGATGACTCT... |
Task1_train_6656 | A genetic alteration is present in SCN11A (sodium voltage-gated channel alpha subunit 11) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary sensory and autonomic neuropathy type 7 | CATCCTTTCAGCTGACACACTGCATCTTCTGGGGACCCTTTTCCATTGCTTTTCCCCCAGGCCCCATGAATTCTGGATGCTGTTGGTTTTCCCACCCATATGTCCTTACTTGAGGACTTTCTCTAATGATTCAAATCCTGTCTTCCTTAGTGCACAGCAAGTAGGAAATTAGAGGGAAATTATTGTCTTCTGTCTTCAGCAATCTTTAATCTATGATGGTCCAAAGTTGGTATATATATACCAACATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATCTATATATACACACACACACACACACACACA... | CATCCTTTCAGCTGACACACTGCATCTTCTGGGGACCCTTTTCCATTGCTTTTCCCCCAGGCCCCATGAATTCTGGATGCTGTTGGTTTTCCCACCCATATGTCCTTACTTGAGGACTTTCTCTAATGATTCAAATCCTGTCTTCCTTAGTGCACAGCAAGTAGGAAATTAGAGGGAAATTATTGTCTTCTGTCTTCAGCAATCTTTAATCTATGATGGTCCAAAGTTGGTATATATATACCAACATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATCTATATATACACACACACACACACACACACA... |
Task1_train_6657 | This is a variant in SCN11A (sodium voltage-gated channel alpha subunit 11), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... |
Task1_train_6658 | A variant affecting Chromosome 3, within the gene SCN11A (sodium voltage-gated channel alpha subunit 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary sensory and autonomic neuropathy type 7 | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... |
Task1_train_6659 | A variant was discovered in gene SCN11A (sodium voltage-gated channel alpha subunit 11), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial episodic pain syndrome with predominantly lower limb involvement | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... | GCTGAATCCTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTG... |
Task1_train_6660 | Consider a variant on Chromosome 3 in gene SCN11A (sodium voltage-gated channel alpha subunit 11). Determine its clinical classification and disease relevance. | Pathogenic; Familial episodic pain syndrome with predominantly lower limb involvement | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... |
Task1_train_6661 | Here is a genetic alteration in SCN11A (sodium voltage-gated channel alpha subunit 11) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial episodic pain syndrome with predominantly lower limb involvement | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... |
Task1_train_6662 | A sequence alteration has been identified in SCN11A (sodium voltage-gated channel alpha subunit 11) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Hereditary sensory and autonomic neuropathy type 7 | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... | CTTTCCCTTGGTGGTCTCACAGCCATCTCAAACATAACATGTTCAAAGCTAGCTTGTAATCTGACCCCAAGGCCTGCTCCTCTCACAGCCTTCTCTGTCTCAATCAGTGACATCAGGTATAAAAGTCATTTTTGACTCCTCTCTTTTGCTCACACCATGTATACAATTGATCAGTCAGGAAATGCTATTGTTTCTACCTTTGAATTGACACAGAATCAAACCAGTGTCTACCAACTCCACTACCACTACCTGATCAGAGAGCACTGCCATCCCTTGCTTGGATTATGGTCTCTTGTGTCAGTTTGGGTTTTGAGGAGCAG... |
Task1_train_6663 | A variant was discovered on Chromosome 3, affecting TTC21A (tetratricopeptide repeat domain 21A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spermatogenic failure 37 | ACCTCCAAACTCTTTCCTGGGAAAACTGCATGGAGCTGCTCCCAGGGCTGTTAGAGGACAGGATGAGGCCTGAATGTTTCCTCTTTCTCTTCCCTTTGCAGAACTGAGGAGGAGCAGGGGATAGGGAAGGGAGCAGGTCTCATCCCATCTGGGACAGAACAGAGACAGAGAAGGGACTGGGCTATTGCAGTTATGTCTTCCTTCATACAGGCTGGGATCATTTACTATAGCCAGGAAAAGTACTTCCACCATGTGCAGCAGGCTGCAGCTGTGGGCCTGGAAAAATTCAGCAATGACCCTGTGTTGAAGTTCTTTAAAGC... | ACCTCCAAACTCTTTCCTGGGAAAACTGCATGGAGCTGCTCCCAGGGCTGTTAGAGGACAGGATGAGGCCTGAATGTTTCCTCTTTCTCTTCCCTTTGCAGAACTGAGGAGGAGCAGGGGATAGGGAAGGGAGCAGGTCTCATCCCATCTGGGACAGAACAGAGACAGAGAAGGGACTGGGCTATTGCAGTTATGTCTTCCTTCATACAGGCTGGGATCATTTACTATAGCCAGGAAAAGTACTTCCACCATGTGCAGCAGGCTGCAGCTGTGGGCCTGGAAAAATTCAGCAATGACCCTGTGTTGAAGTTCTTTAAAGC... |
Task1_train_6664 | This is a variant in SLC25A38 (solute carrier family 25 member 38), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Sideroblastic anemia 2 | ATCCCAGTGTGGATTGGAGAAGAGGCAAGTGTGTGGAGAACTGTTGACCAAGTTTCCATTTTGGACATGTTGAATTTGAGATGCCTGTGGGCCATTTGAGGGAAGACAAGGAGACATTAGCAGAGTCTGGGGAGAGGCCAGCCTGGGCTGGAGATGTGGGCATTACCAGCATGTGTGTGAAGCCTGGATATGGGTGAGGTTACTCTGAAAGGAGATAAGAGGAGCAGTCCTATGTGAAGGGCAGGCCAAAGAAGAGAAGGAGAGAGAAACCAGAAACTGTGAGGAGAGGCACTCAGCTATATGGCATGTACCAGAGAGGC... | ATCCCAGTGTGGATTGGAGAAGAGGCAAGTGTGTGGAGAACTGTTGACCAAGTTTCCATTTTGGACATGTTGAATTTGAGATGCCTGTGGGCCATTTGAGGGAAGACAAGGAGACATTAGCAGAGTCTGGGGAGAGGCCAGCCTGGGCTGGAGATGTGGGCATTACCAGCATGTGTGTGAAGCCTGGATATGGGTGAGGTTACTCTGAAAGGAGATAAGAGGAGCAGTCCTATGTGAAGGGCAGGCCAAAGAAGAGAAGGAGAGAGAAACCAGAAACTGTGAGGAGAGGCACTCAGCTATATGGCATGTACCAGAGAGGC... |
Task1_train_6665 | This mutation occurs in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Sideroblastic anemia 2 | TCTAAGAGACCATTATAAAGGAATTTGCTGGTCAGGTATAGAGAAAGGTGAGGCTCACACAGGCAGAGCTACTGACACAATATTGTCTTATCCTGCAGTTACATCCGGTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAG... | TCTAAGAGACCATTATAAAGGAATTTGCTGGTCAGGTATAGAGAAAGGTGAGGCTCACACAGGCAGAGCTACTGACACAATATTGTCTTATCCTGCAGTTACATCCGGTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAG... |
Task1_train_6666 | This variant lies on Chromosome 3 and affects the gene SLC25A38 (solute carrier family 25 member 38). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sideroblastic anemia 2 | TTGCTGGTCAGGTATAGAGAAAGGTGAGGCTCACACAGGCAGAGCTACTGACACAATATTGTCTTATCCTGCAGTTACATCCGGTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAAC... | TTGCTGGTCAGGTATAGAGAAAGGTGAGGCTCACACAGGCAGAGCTACTGACACAATATTGTCTTATCCTGCAGTTACATCCGGTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAAC... |
Task1_train_6667 | A variant has been detected on Chromosome 3 in SLC25A38 (solute carrier family 25 member 38). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Sideroblastic anemia 2 | GTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAAT... | GTGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAAT... |
Task1_train_6668 | The gene SLC25A38 (solute carrier family 25 member 38) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Sideroblastic anemia 2 | TGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATC... | TGATCAAGGCTTTCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATC... |
Task1_train_6669 | The gene SLC25A38 (solute carrier family 25 member 38) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Sideroblastic anemia 2 | TCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATCGGCTCAGTGACA... | TCCTGTGTGGCTCCATCAGTGGGACCTGCTCTACCCTCCTTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATCGGCTCAGTGACA... |
Task1_train_6670 | The following genetic variant occurs in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Sideroblastic anemia 2 | TTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATCGGCTCAGTGACATTTACACTTTATTGTGTTAGCTTGTGATGTTATAACTGT... | TTTTCCAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGGCCCTGCATTTCATTGGGGAACTGATTTCAGCAACTTCTCAGACACAGGAACATCTTTACTGTGTTAAGTCAACTTCCATTCTGTTGGATGTTCAGAGAGAAACACAGGCCATGCCCAACTTTCATATGTTCTCTGAATTGTTTTTATATTTGACATTTCTTTTTAATTAAATGGGGTCCGTTCCTGAGCAGCTTCCTGGAATCGGCTCAGTGACATTTACACTTTATTGTGTTAGCTTGTGATGTTATAACTGT... |
Task1_train_6671 | Here is a mutation in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sideroblastic anemia 2 | CTGGAATCGGCTCAGTGACATTTACACTTTATTGTGTTAGCTTGTGATGTTATAACTGTATTGCCTGGCATGAGAGTACCAGGGGATTTTCTGGAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTT... | CTGGAATCGGCTCAGTGACATTTACACTTTATTGTGTTAGCTTGTGATGTTATAACTGTATTGCCTGGCATGAGAGTACCAGGGGATTTTCTGGAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTT... |
Task1_train_6672 | An alteration has been detected in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sideroblastic anemia 2 | TGGAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCC... | TGGAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCC... |
Task1_train_6673 | A variant affecting Chromosome 3, within the gene SLC25A38 (solute carrier family 25 member 38), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Sideroblastic anemia 2 | GAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCAC... | GAAATAACATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCAC... |
Task1_train_6674 | With a mutation on Chromosome 3 in gene SLC25A38 (solute carrier family 25 member 38), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Sideroblastic anemia 2 | CATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCACCC... | CATCAGTATTATCTGTTTTTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCACCC... |
Task1_train_6675 | This alteration in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sideroblastic anemia 2 | TTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCACCCAGCCTCTATTGTCTGTTT... | TTGTTTTTGTTTTATTTGTTTTTTGAGGCAGATGCTCGCTCTGTTGCCCAGATTGGAGTGCAGAGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTGCAGGTGCTCGCCACCATACCCAGCTAATTTTTGTAATTTTGGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCGAGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCACCCAGCCTCTATTGTCTGTTT... |
Task1_train_6676 | Here is a mutation in SLC25A38 (solute carrier family 25 member 38) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sideroblastic anemia 2 | TCTTGTTAAAGTCAGGGAAACAGTAGTAAGTTAGGAGTTTAAAGAAAAATAATATTTTCATCTCCCTTGCTGTGTTCCCAGTTAACATGGTTTTGAGCCCTCCATTTAGGTGGAGATGAAGGTGTCAAACTTCAGTCAGTGGGGGAGGCCCACCCCACCCCACCAGTTAGCTCAGGTTGGGCTAGACATGGACAAAATTGGTAGGCAGTAAACAACGACCCAAGCAGAACAAGGTATTGCTAGAAACACATCCATAGAATGAACCTGCATGTAATAAAGTGTCTATGGATAATTTGAGCAAGGAATTGCAACCAAGGTCC... | TCTTGTTAAAGTCAGGGAAACAGTAGTAAGTTAGGAGTTTAAAGAAAAATAATATTTTCATCTCCCTTGCTGTGTTCCCAGTTAACATGGTTTTGAGCCCTCCATTTAGGTGGAGATGAAGGTGTCAAACTTCAGTCAGTGGGGGAGGCCCACCCCACCCCACCAGTTAGCTCAGGTTGGGCTAGACATGGACAAAATTGGTAGGCAGTAAACAACGACCCAAGCAGAACAAGGTATTGCTAGAAACACATCCATAGAATGAACCTGCATGTAATAAAGTGTCTATGGATAATTTGAGCAAGGAATTGCAACCAAGGTCC... |
Task1_train_6677 | The gene SLC25A38 (solute carrier family 25 member 38), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Sideroblastic anemia 2 | GTTACCTTTGTTCTATTTCAGACCAGGTGGATGCAACCCTTATTCCTATTACAAATTTCAGCTGTGGGATATTTGCTGGTATTCTGGCCTCACTGGTAACTCAACCTGCGGATGTTATCAAAACTCATATGCAGCTTTATCCACTGAAGTTTCAATGGATTGGCCAAGCAGTGACACTTATTTTCAAAGTAAGACTACAAAATAAGTACTGGTTCTTGTGGTGTTTAAGGATCTCTTTCTAGAGCAGTAGTTCTTACCCTTCACTCACATTAAAATTGCCTAGAGAGCTTTTAAAAATCCCCATGCCCAGGTTAAAATCT... | GTTACCTTTGTTCTATTTCAGACCAGGTGGATGCAACCCTTATTCCTATTACAAATTTCAGCTGTGGGATATTTGCTGGTATTCTGGCCTCACTGGTAACTCAACCTGCGGATGTTATCAAAACTCATATGCAGCTTTATCCACTGAAGTTTCAATGGATTGGCCAAGCAGTGACACTTATTTTCAAAGTAAGACTACAAAATAAGTACTGGTTCTTGTGGTGTTTAAGGATCTCTTTCTAGAGCAGTAGTTCTTACCCTTCACTCACATTAAAATTGCCTAGAGAGCTTTTAAAAATCCCCATGCCCAGGTTAAAATCT... |
Task1_train_6678 | Located on Chromosome 3, this mutation impacts SLC25A38 (solute carrier family 25 member 38). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Sideroblastic anemia 2 | GTTACCTTTGTTCTATTTCAGACCAGGTGGATGCAACCCTTATTCCTATTACAAATTTCAGCTGTGGGATATTTGCTGGTATTCTGGCCTCACTGGTAACTCAACCTGCGGATGTTATCAAAACTCATATGCAGCTTTATCCACTGAAGTTTCAATGGATTGGCCAAGCAGTGACACTTATTTTCAAAGTAAGACTACAAAATAAGTACTGGTTCTTGTGGTGTTTAAGGATCTCTTTCTAGAGCAGTAGTTCTTACCCTTCACTCACATTAAAATTGCCTAGAGAGCTTTTAAAAATCCCCATGCCCAGGTTAAAATCT... | GTTACCTTTGTTCTATTTCAGACCAGGTGGATGCAACCCTTATTCCTATTACAAATTTCAGCTGTGGGATATTTGCTGGTATTCTGGCCTCACTGGTAACTCAACCTGCGGATGTTATCAAAACTCATATGCAGCTTTATCCACTGAAGTTTCAATGGATTGGCCAAGCAGTGACACTTATTTTCAAAGTAAGACTACAAAATAAGTACTGGTTCTTGTGGTGTTTAAGGATCTCTTTCTAGAGCAGTAGTTCTTACCCTTCACTCACATTAAAATTGCCTAGAGAGCTTTTAAAAATCCCCATGCCCAGGTTAAAATCT... |
Task1_train_6679 | Located on Chromosome 3, this mutation impacts RPSA (ribosomal protein SA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial isolated congenital asplenia | GGCGCAAGCCCGCCTTCCTGAAGAAAAAGCCCAGTCCCGGCAGCGTTCTTCTCCGGCTCCGCCCTTCTTCCGCTCGACTTTCTTTGCCATTGGCTGACAACGGAGTACATAAGGACGTCATTTCCTGCCGCCTGTCTTTTCCGTGCTACCTGCAGAGGGGTCCATACGGCGTTGTTCTGGGTGAGTTCCGTGTAGCGTCCCTGGCGCCTTCCAGGGCTAGAAAAATGAGCTTTTCCTGCTCAAATGAAGGGTGAGAAGACTAGTGATGAAAGCCGGTCAGACTGGATCTGTCTCCCGCCCGGCGCGCCCCACCTTAGGCC... | GGCGCAAGCCCGCCTTCCTGAAGAAAAAGCCCAGTCCCGGCAGCGTTCTTCTCCGGCTCCGCCCTTCTTCCGCTCGACTTTCTTTGCCATTGGCTGACAACGGAGTACATAAGGACGTCATTTCCTGCCGCCTGTCTTTTCCGTGCTACCTGCAGAGGGGTCCATACGGCGTTGTTCTGGGTGAGTTCCGTGTAGCGTCCCTGGCGCCTTCCAGGGCTAGAAAAATGAGCTTTTCCTGCTCAAATGAAGGGTGAGAAGACTAGTGATGAAAGCCGGTCAGACTGGATCTGTCTCCCGCCCGGCGCGCCCCACCTTAGGCC... |
Task1_train_6680 | This is a variant in RPSA (ribosomal protein SA), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Familial isolated congenital asplenia | GCCTTCCTGAAGAAAAAGCCCAGTCCCGGCAGCGTTCTTCTCCGGCTCCGCCCTTCTTCCGCTCGACTTTCTTTGCCATTGGCTGACAACGGAGTACATAAGGACGTCATTTCCTGCCGCCTGTCTTTTCCGTGCTACCTGCAGAGGGGTCCATACGGCGTTGTTCTGGGTGAGTTCCGTGTAGCGTCCCTGGCGCCTTCCAGGGCTAGAAAAATGAGCTTTTCCTGCTCAAATGAAGGGTGAGAAGACTAGTGATGAAAGCCGGTCAGACTGGATCTGTCTCCCGCCCGGCGCGCCCCACCTTAGGCCTGCGGCCCGCA... | GCCTTCCTGAAGAAAAAGCCCAGTCCCGGCAGCGTTCTTCTCCGGCTCCGCCCTTCTTCCGCTCGACTTTCTTTGCCATTGGCTGACAACGGAGTACATAAGGACGTCATTTCCTGCCGCCTGTCTTTTCCGTGCTACCTGCAGAGGGGTCCATACGGCGTTGTTCTGGGTGAGTTCCGTGTAGCGTCCCTGGCGCCTTCCAGGGCTAGAAAAATGAGCTTTTCCTGCTCAAATGAAGGGTGAGAAGACTAGTGATGAAAGCCGGTCAGACTGGATCTGTCTCCCGCCCGGCGCGCCCCACCTTAGGCCTGCGGCCCGCA... |
Task1_train_6681 | A mutation in RPSA (ribosomal protein SA), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial isolated congenital asplenia | TTACCTTAAAACAATGAAATACTGGGACAGAAATTTTTTAAGAATCTTAGCCAGTCATGACGGCATGCACCCATAGTTCCCGTTAATTGGGAGTCTGAGCCAGGAGATCCCTCAAGTCCAGGAGCTGGGGGCTGCAGTAAGTTATGATTTTGCCACTGCACTCCAAGCCTGGGGCACAGAGTGAGATCCTGTTTCTTAAAAAAGCCAGTCATGGGTGGCTCATGCTTTTGTAATATGGGGTACTTTGTGAGGCTGAGGCTGGTGGCTTGCTTGAGCCCAGAAGTTCGAGACCAGGGTGGGCAACGTGGCAAAACTCCGTC... | TTACCTTAAAACAATGAAATACTGGGACAGAAATTTTTTAAGAATCTTAGCCAGTCATGACGGCATGCACCCATAGTTCCCGTTAATTGGGAGTCTGAGCCAGGAGATCCCTCAAGTCCAGGAGCTGGGGGCTGCAGTAAGTTATGATTTTGCCACTGCACTCCAAGCCTGGGGCACAGAGTGAGATCCTGTTTCTTAAAAAAGCCAGTCATGGGTGGCTCATGCTTTTGTAATATGGGGTACTTTGTGAGGCTGAGGCTGGTGGCTTGCTTGAGCCCAGAAGTTCGAGACCAGGGTGGGCAACGTGGCAAAACTCCGTC... |
Task1_train_6682 | Located on Chromosome 3, this mutation impacts RPSA (ribosomal protein SA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TTACCTTAAAACAATGAAATACTGGGACAGAAATTTTTTAAGAATCTTAGCCAGTCATGACGGCATGCACCCATAGTTCCCGTTAATTGGGAGTCTGAGCCAGGAGATCCCTCAAGTCCAGGAGCTGGGGGCTGCAGTAAGTTATGATTTTGCCACTGCACTCCAAGCCTGGGGCACAGAGTGAGATCCTGTTTCTTAAAAAAGCCAGTCATGGGTGGCTCATGCTTTTGTAATATGGGGTACTTTGTGAGGCTGAGGCTGGTGGCTTGCTTGAGCCCAGAAGTTCGAGACCAGGGTGGGCAACGTGGCAAAACTCCGTC... | TTACCTTAAAACAATGAAATACTGGGACAGAAATTTTTTAAGAATCTTAGCCAGTCATGACGGCATGCACCCATAGTTCCCGTTAATTGGGAGTCTGAGCCAGGAGATCCCTCAAGTCCAGGAGCTGGGGGCTGCAGTAAGTTATGATTTTGCCACTGCACTCCAAGCCTGGGGCACAGAGTGAGATCCTGTTTCTTAAAAAAGCCAGTCATGGGTGGCTCATGCTTTTGTAATATGGGGTACTTTGTGAGGCTGAGGCTGGTGGCTTGCTTGAGCCCAGAAGTTCGAGACCAGGGTGGGCAACGTGGCAAAACTCCGTC... |
Task1_train_6683 | This sequence change occurs on Chromosome 3, altering CTNNB1, LOC126806658 (catenin beta 1| BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Juvenile nasopharyngeal angiofibroma | TGGAACATGAACTTGCTTTTTTCCATTGTAAAAATGAAATCATTATAAATTGCGGTCAAGTTACTAGGTCAGCCCACACAGAGTTTACCCAGTAATATGCGTAAATGTTTTGCCTTTGCATCAACAACAAGGAAAAACAGTACTATAAAAAAATGTTCCTGGAAGCCGGATGTATCAAAGCACTTCTGAAATAGCTATATAGCCTATAGACATGACCAGTTGGTTTCTGAGTCTGTTGACATTGGCCAAAGGAGAAGCTCAGTGTAGAACATGTTTGGAGTCTCCTTTTGCAGAAATACATTGGAGGCTGGAGTGGGGAA... | TGGAACATGAACTTGCTTTTTTCCATTGTAAAAATGAAATCATTATAAATTGCGGTCAAGTTACTAGGTCAGCCCACACAGAGTTTACCCAGTAATATGCGTAAATGTTTTGCCTTTGCATCAACAACAAGGAAAAACAGTACTATAAAAAAATGTTCCTGGAAGCCGGATGTATCAAAGCACTTCTGAAATAGCTATATAGCCTATAGACATGACCAGTTGGTTTCTGAGTCTGTTGACATTGGCCAAAGGAGAAGCTCAGTGTAGAACATGTTTGGAGTCTCCTTTTGCAGAAATACATTGGAGGCTGGAGTGGGGAA... |
Task1_train_6684 | A variant affecting Chromosome 3, within the gene CTNNB1, LOC126806658 (catenin beta 1| BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe intellectual disability-progressive spastic diplegia syndrome | GTGCTTTTGTGTTGCAAACTTTCATTTGAAAAGTAATTTTTCTTTGTACCAAAAAATCTAAAATTCGCTATTCTAGTCACCAAAATTTGCTTTATGAAAAATAATTTTTGATGGCACTATATCAGAAAACAACTTGTTAAAGAAAATGTGGAGTTTTTAAAATCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCA... | GTGCTTTTGTGTTGCAAACTTTCATTTGAAAAGTAATTTTTCTTTGTACCAAAAAATCTAAAATTCGCTATTCTAGTCACCAAAATTTGCTTTATGAAAAATAATTTTTGATGGCACTATATCAGAAAACAACTTGTTAAAGAAAATGTGGAGTTTTTAAAATCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCA... |
Task1_train_6685 | Located on Chromosome 3, this mutation impacts ZBTB47 (zinc finger and BTB domain containing 47). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TGAGGTGTTTGGGGCTGGGCAAGCTTGCTTTTATTGGTATGTGTGAGTGAATATGTGGAGAGAATCCACGGGGCTGAGGAAATGCTGAAGGAATGCCTGTGGCCCTCCTGGGGTGACCACCTGGTCCCGGTGTGCCTGCGATGGTCCTGGTTCTAGCACTGAAAGCCCTGCACCCCAGAAAATGCCCAGGTCCCTGGCAAACCTGGATGGTTGGTCACTGTGGTCTCTCTTTCATCCCCTTTCCTTCCCTTTCCCTTCCTGGGATGACTTTTCCCATTTCCCAGGAGATGACCCAGAGGCCCAGAAAGTGACAGGACCTG... | TGAGGTGTTTGGGGCTGGGCAAGCTTGCTTTTATTGGTATGTGTGAGTGAATATGTGGAGAGAATCCACGGGGCTGAGGAAATGCTGAAGGAATGCCTGTGGCCCTCCTGGGGTGACCACCTGGTCCCGGTGTGCCTGCGATGGTCCTGGTTCTAGCACTGAAAGCCCTGCACCCCAGAAAATGCCCAGGTCCCTGGCAAACCTGGATGGTTGGTCACTGTGGTCTCTCTTTCATCCCCTTTCCTTCCCTTTCCCTTCCTGGGATGACTTTTCCCATTTCCCAGGAGATGACCCAGAGGCCCAGAAAGTGACAGGACCTG... |
Task1_train_6686 | A variant affecting Chromosome 3, within the gene KLHL40 (kelch like family member 40), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Nemaline myopathy 8 | AGGAATGATGGGGGTGTGTCTCATAATAGTTCATTCCAATGTCCTGGGGGCTAAATTTAACACACAGCTGCAGCCTCTGGCACTTTGGGAACAAGTTAATCTTGGTGACTGAGGCTGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGTGGTGGGGCGGGGTGGGGAGGGTGTGGGGAGGGGTGTCAGTAGTCTAGAACAAGGTAGGCATCAAGACTGGCTGTCCTGGGCTTCAACCCTGGTCCCTCAGACCATAGACAAGGTGCAGGGGCCCCATGGCCAGGCAGTCTCAGGTCTGGCCTAATATGCACCAAGAAT... | AGGAATGATGGGGGTGTGTCTCATAATAGTTCATTCCAATGTCCTGGGGGCTAAATTTAACACACAGCTGCAGCCTCTGGCACTTTGGGAACAAGTTAATCTTGGTGACTGAGGCTGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGTGGTGGGGCGGGGTGGGGAGGGTGTGGGGAGGGGTGTCAGTAGTCTAGAACAAGGTAGGCATCAAGACTGGCTGTCCTGGGCTTCAACCCTGGTCCCTCAGACCATAGACAAGGTGCAGGGGCCCCATGGCCAGGCAGTCTCAGGTCTGGCCTAATATGCACCAAGAAT... |
Task1_train_6687 | A variant was discovered in gene KLHL40 (kelch like family member 40), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Nemaline myopathy 8 | GCCACCTACTTGAAGGTTGAAGACAGTCAATAGGCAGCTGCCAAAAAGCAGCATAACTTTGGTATCTTAATTTCAGGGGTGTGGTAGCCCCAAGTTGGCATATGTTGGAGGCCCTGGCCCTGCACAGGGGTTGGGGTGGGGCACAGTAAGGAGCAGCAAGGTCGGTGTGAGGATCCTGGGCAGGGCCTCTGCGTGAAGGCCAGGCCCGGAGCTCACAGCAGTGTCCCAGACAAAGGAACAATCCTGTATGGTCCTCCCATTGTACAGATGAGGAAACTGAGGCCCAGGAGGTATCAGCAGAGTGGAGTGCCAGGTCTGAG... | GCCACCTACTTGAAGGTTGAAGACAGTCAATAGGCAGCTGCCAAAAAGCAGCATAACTTTGGTATCTTAATTTCAGGGGTGTGGTAGCCCCAAGTTGGCATATGTTGGAGGCCCTGGCCCTGCACAGGGGTTGGGGTGGGGCACAGTAAGGAGCAGCAAGGTCGGTGTGAGGATCCTGGGCAGGGCCTCTGCGTGAAGGCCAGGCCCGGAGCTCACAGCAGTGTCCCAGACAAAGGAACAATCCTGTATGGTCCTCCCATTGTACAGATGAGGAAACTGAGGCCCAGGAGGTATCAGCAGAGTGGAGTGCCAGGTCTGAG... |
Task1_train_6688 | Assess the clinical impact of this variant on gene KLHL40 (kelch like family member 40), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Nemaline myopathy 8 | AGGCGTGGCTGGGCTCCTGCTTCTCTCCACCCATCCCCACCCTCCACCCCACAGGAAGTGCCTGAACAAGATGTGCGTCTATGACCCCAAGAAGTTTGAGTGGAAGGAGCTGGCACCCATGCAGACCGCCCGCTCACTCTTTGGGGCCACTGTCCATGATGGCCGCATTATCGTGGCAGCTGGGGTCACCGACACAGGGCTGACCAGTTCTGCCGAAGTGTACAGCATCACAGACAACAAGTATGAAAGCTTGTCCCTTCCGCCAAGGACAACTGCATGGCTTTGGGCTTCTGTCAGCCCCAGCAGGAGCTGCAGTCCCT... | AGGCGTGGCTGGGCTCCTGCTTCTCTCCACCCATCCCCACCCTCCACCCCACAGGAAGTGCCTGAACAAGATGTGCGTCTATGACCCCAAGAAGTTTGAGTGGAAGGAGCTGGCACCCATGCAGACCGCCCGCTCACTCTTTGGGGCCACTGTCCATGATGGCCGCATTATCGTGGCAGCTGGGGTCACCGACACAGGGCTGACCAGTTCTGCCGAAGTGTACAGCATCACAGACAACAAGTATGAAAGCTTGTCCCTTCCGCCAAGGACAACTGCATGGCTTTGGGCTTCTGTCAGCCCCAGCAGGAGCTGCAGTCCCT... |
Task1_train_6689 | This is a variant in POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | TGATTGATAAGCTACACCTGGGCTGGAAGGACAAAGAATAAGCTATACCATCTGGTAAGAAACCATGGCCTTAGGCTTCCCTAAGTGCAGAAACTCATAACTGGGCATGTCCCTTGAGGGACCCTGGGAACTCTGATTGTGGGTTGTTGAAAACACATTGACTCCTATGGGGCATGGGCTTCTGAATCAAGGTGGCCCTCAGGAGTACTGATGTAAGGACTGCTCCTGTGGAAGGGAACTGCTGACATGGCCCTGCTGGCATGCTGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAG... | TGATTGATAAGCTACACCTGGGCTGGAAGGACAAAGAATAAGCTATACCATCTGGTAAGAAACCATGGCCTTAGGCTTCCCTAAGTGCAGAAACTCATAACTGGGCATGTCCCTTGAGGGACCCTGGGAACTCTGATTGTGGGTTGTTGAAAACACATTGACTCCTATGGGGCATGGGCTTCTGAATCAAGGTGGCCCTCAGGAGTACTGATGTAAGGACTGCTCCTGTGGAAGGGAACTGCTGACATGGCCCTGCTGGCATGCTGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAG... |
Task1_train_6690 | Given this context: Chromosome 3, gene POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | CTGGCATGCTGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAGGTCTTGCGAGTCTTAATGTCTAGTTGAGCCCAAAAAAAAACCCATGGTGGATACAGCTCTTCCTCCCCTCAGCCCTCTCCTACCTACTTCTAGGCTTTTATCCCATGTAGGTGGAACTGTGATATTAGTCCAGCTAGTCAAGATGAAATCCAACCAGCTTGCTCACTTTGCCATCCTGGGCGCTTTCCCATTGCCACGTCTCCCTAGCTAACAATCAAGATTAAAGGGCACCTGGGTTTTGACGACCAGCTCCCC... | CTGGCATGCTGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAGGTCTTGCGAGTCTTAATGTCTAGTTGAGCCCAAAAAAAAACCCATGGTGGATACAGCTCTTCCTCCCCTCAGCCCTCTCCTACCTACTTCTAGGCTTTTATCCCATGTAGGTGGAACTGTGATATTAGTCCAGCTAGTCAAGATGAAATCCAACCAGCTTGCTCACTTTGCCATCCTGGGCGCTTTCCCATTGCCACGTCTCCCTAGCTAACAATCAAGATTAAAGGGCACCTGGGTTTTGACGACCAGCTCCCC... |
Task1_train_6691 | A variant was discovered on Chromosome 3, affecting POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | TGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAGGTCTTGCGAGTCTTAATGTCTAGTTGAGCCCAAAAAAAAACCCATGGTGGATACAGCTCTTCCTCCCCTCAGCCCTCTCCTACCTACTTCTAGGCTTTTATCCCATGTAGGTGGAACTGTGATATTAGTCCAGCTAGTCAAGATGAAATCCAACCAGCTTGCTCACTTTGCCATCCTGGGCGCTTTCCCATTGCCACGTCTCCCTAGCTAACAATCAAGATTAAAGGGCACCTGGGTTTTGACGACCAGCTCCCCTTCCTCCCA... | TGAGCATCTCTCTCCATCCTTCTAAGAAACTCTGATGCCAGGTATGATCTGTCCAGGTCTTGCGAGTCTTAATGTCTAGTTGAGCCCAAAAAAAAACCCATGGTGGATACAGCTCTTCCTCCCCTCAGCCCTCTCCTACCTACTTCTAGGCTTTTATCCCATGTAGGTGGAACTGTGATATTAGTCCAGCTAGTCAAGATGAAATCCAACCAGCTTGCTCACTTTGCCATCCTGGGCGCTTTCCCATTGCCACGTCTCCCTAGCTAACAATCAAGATTAAAGGGCACCTGGGTTTTGACGACCAGCTCCCCTTCCTCCCA... |
Task1_train_6692 | A variant on Chromosome 3 in gene ANO10 (anoctamin 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive spinocerebellar ataxia 10 | TTAGCCGTTATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAAGTGCCCACCA... | TTAGCCGTTATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAAGTGCCCACCA... |
Task1_train_6693 | Chromosome 3 houses a mutation in gene ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Triglyceride storage disease with ichthyosis | GTGTTATTTTTGTATGTAGGTGCAGATGTTTGTACATGCCTGTTTTTCATTCTCTTTACCACTAATGAATTTGTTTGTGCATTTGAATGATTCAGGAGTAAGTGACCATAACTGGATATATCCTTAGGAAGGGATAATTAGCCATCTTTCATGAATTTTTTTTTTTTTTTGAGATGGAGCCTTGCTCTGTTACCCAAGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATACCCAGCTAAT... | GTGTTATTTTTGTATGTAGGTGCAGATGTTTGTACATGCCTGTTTTTCATTCTCTTTACCACTAATGAATTTGTTTGTGCATTTGAATGATTCAGGAGTAAGTGACCATAACTGGATATATCCTTAGGAAGGGATAATTAGCCATCTTTCATGAATTTTTTTTTTTTTTTGAGATGGAGCCTTGCTCTGTTACCCAAGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATACCCAGCTAAT... |
Task1_train_6694 | A genetic alteration is present in ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Triglyceride storage disease with ichthyosis | GTTCACTCTTCCCTCAAAGTTCTCATGAACATGTTGAGAAAGTCTTGGTCTTGGGCATCTCCAAGAGATGGTTTGAGTTGAGAGTTGAAGAATTTCACATAAAGAAGTATTTCCCAAACTGAGTATGAATGTTTCAAAAAAAGAAAAAAGGGTGCTGGATTAAACAAAAGTAAATGATTGTCTATACTATGAATCCTCTTAGAACCTTTACTATACCGAAGGGTATTGAATCTCCCAAGTGAATGGGAGATGCTATGTGTATTTTTCAAGTTCATTTGATGATTGTACTCCTGAACAACTCTAAAGATCTGTAGGTCAGC... | GTTCACTCTTCCCTCAAAGTTCTCATGAACATGTTGAGAAAGTCTTGGTCTTGGGCATCTCCAAGAGATGGTTTGAGTTGAGAGTTGAAGAATTTCACATAAAGAAGTATTTCCCAAACTGAGTATGAATGTTTCAAAAAAAGAAAAAAGGGTGCTGGATTAAACAAAAGTAAATGATTGTCTATACTATGAATCCTCTTAGAACCTTTACTATACCGAAGGGTATTGAATCTCCCAAGTGAATGGGAGATGCTATGTGTATTTTTCAAGTTCATTTGATGATTGTACTCCTGAACAACTCTAAAGATCTGTAGGTCAGC... |
Task1_train_6695 | Given this context: Chromosome 3, gene ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Triglyceride storage disease with ichthyosis | TTGAGAAAGTCTTGGTCTTGGGCATCTCCAAGAGATGGTTTGAGTTGAGAGTTGAAGAATTTCACATAAAGAAGTATTTCCCAAACTGAGTATGAATGTTTCAAAAAAAGAAAAAAGGGTGCTGGATTAAACAAAAGTAAATGATTGTCTATACTATGAATCCTCTTAGAACCTTTACTATACCGAAGGGTATTGAATCTCCCAAGTGAATGGGAGATGCTATGTGTATTTTTCAAGTTCATTTGATGATTGTACTCCTGAACAACTCTAAAGATCTGTAGGTCAGCATTAGAAATGCAGCTGCAGAGGGTGAGGAGTAA... | TTGAGAAAGTCTTGGTCTTGGGCATCTCCAAGAGATGGTTTGAGTTGAGAGTTGAAGAATTTCACATAAAGAAGTATTTCCCAAACTGAGTATGAATGTTTCAAAAAAAGAAAAAAGGGTGCTGGATTAAACAAAAGTAAATGATTGTCTATACTATGAATCCTCTTAGAACCTTTACTATACCGAAGGGTATTGAATCTCCCAAGTGAATGGGAGATGCTATGTGTATTTTTCAAGTTCATTTGATGATTGTACTCCTGAACAACTCTAAAGATCTGTAGGTCAGCATTAGAAATGCAGCTGCAGAGGGTGAGGAGTAA... |
Task1_train_6696 | This sequence variant lies in CLEC3B (C-type lectin domain family 3 member B) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Macular dystrophy, retinal, 4 | TCAGGTGAGGGTCCTAGGAAGCAACTCTGAGATGGAGTTTAACCCACAGGAGACTTATCAGGAGATACCCTCAGGATCAACCCCTGTGCTAGGGAAGGGATGGAAGGAAGCAGGAGTGGGCAGAAGGAGAAGTCGAGCTGTACTGTGGTGCCACGAAAGCCTCAGCTGACTTCAGGAGCCCTGATGACGGGATGACCCTTCGGCACTGTCCTGAGTCGGGGCAAGAGGGCTTATGGGTCAGTCTTGGGTGTAGGCTGCTCTAGGGAGGGGCACGGCCTTGGAAGAGATGGCTGTCTTCTGCTGAGGCAGTCCCTGCAGGA... | TCAGGTGAGGGTCCTAGGAAGCAACTCTGAGATGGAGTTTAACCCACAGGAGACTTATCAGGAGATACCCTCAGGATCAACCCCTGTGCTAGGGAAGGGATGGAAGGAAGCAGGAGTGGGCAGAAGGAGAAGTCGAGCTGTACTGTGGTGCCACGAAAGCCTCAGCTGACTTCAGGAGCCCTGATGACGGGATGACCCTTCGGCACTGTCCTGAGTCGGGGCAAGAGGGCTTATGGGTCAGTCTTGGGTGTAGGCTGCTCTAGGGAGGGGCACGGCCTTGGAAGAGATGGCTGTCTTCTGCTGAGGCAGTCCCTGCAGGA... |
Task1_train_6697 | The gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Perrault syndrome 4 | TATGCTATCATCCCCATTTTACAGACGATGAAACTGAGGAGAAAAGGAACCTACACATGGAACCTTTCTTATACCAAAAGCATAGCTAGTGGTTTGCAATTAATTTAAAAATATTGGCTATTTTAGGCCAGGCTCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGGGGTATGTGCCTGTAATCCCAGCTACTGGGGAGGCTCAGGCAGGAGGA... | TATGCTATCATCCCCATTTTACAGACGATGAAACTGAGGAGAAAAGGAACCTACACATGGAACCTTTCTTATACCAAAAGCATAGCTAGTGGTTTGCAATTAATTTAAAAATATTGGCTATTTTAGGCCAGGCTCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGGGGTATGTGCCTGTAATCCCAGCTACTGGGGAGGCTCAGGCAGGAGGA... |
Task1_train_6698 | This variant affects the gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Perrault syndrome 4 | GTGTACAATTTTAAATTTTCTAGTAGCCACATTTTTTAAAAGTGCAAAGAACAGGTGAAATGAATTTCAATAACATATTTTATTTAACCCATTACAACCAAAATGATTCCATTTAAAGATGGGCTCAATAAAAAATGATTTATTAAAGAAAGAGTTTACATTTTAGTACAGTCTTTGAAATCTGTGTTCTACATTTATAGTACACATTAGCCATATTTCAAGTGCTATGATTCATAGCCACATATTGCTACTGGCTACCATATTGGACAGCACAGACACAGAGGGTCTTCAGGGGTCCATGAACTCCCTGAAGTTTTATG... | GTGTACAATTTTAAATTTTCTAGTAGCCACATTTTTTAAAAGTGCAAAGAACAGGTGAAATGAATTTCAATAACATATTTTATTTAACCCATTACAACCAAAATGATTCCATTTAAAGATGGGCTCAATAAAAAATGATTTATTAAAGAAAGAGTTTACATTTTAGTACAGTCTTTGAAATCTGTGTTCTACATTTATAGTACACATTAGCCATATTTCAAGTGCTATGATTCATAGCCACATATTGCTACTGGCTACCATATTGGACAGCACAGACACAGAGGGTCTTCAGGGGTCCATGAACTCCCTGAAGTTTTATG... |
Task1_train_6699 | The gene LARS2, LARS2-AS1 (leucyl-tRNA synthetase 2, mitochondrial| LARS2 antisense RNA 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | CTGCTGCTAATGCTGCTGGTCCAGGGAACACATTTTGAGAATCAAGGGCTTAGAACCTTGCCACTTAATGTCTGGTCCCTGGACCAGCAGTACTGGCATCACGTGTCTTAGATCCCACCCTAGTCTAATAAGATCCCTATATGATTTGTATGCACATTAGAAGTTTGAGAATACTGGCTTAGAGCACTCTTAAACTTAACTGCACATTGGAAACACCTGAGAGTTTTAAAATAATACTGATGCCTGGGTCTCACTCCAGATACTCCGATTTGATGGTTATTGGTGGTGAGGGGGGCATGGATCAGACATCAATAGTGTTC... | CTGCTGCTAATGCTGCTGGTCCAGGGAACACATTTTGAGAATCAAGGGCTTAGAACCTTGCCACTTAATGTCTGGTCCCTGGACCAGCAGTACTGGCATCACGTGTCTTAGATCCCACCCTAGTCTAATAAGATCCCTATATGATTTGTATGCACATTAGAAGTTTGAGAATACTGGCTTAGAGCACTCTTAAACTTAACTGCACATTGGAAACACCTGAGAGTTTTAAAATAATACTGATGCCTGGGTCTCACTCCAGATACTCCGATTTGATGGTTATTGGTGGTGAGGGGGGCATGGATCAGACATCAATAGTGTTC... |
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