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 |
|---|---|---|---|---|
Task1_train_25400 | This genomic variant is located on Chromosome 17, within the SCN4A (sodium voltage-gated channel alpha subunit 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Potassium-aggravated myotonia | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25401 | A variant found in Chromosome 17 affects SCN4A (sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital myopathy 22A, classic | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25402 | Gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital myopathy 22B, severe fetal | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25403 | With a mutation on Chromosome 17 in gene SCN4A (sodium voltage-gated channel alpha subunit 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Paramyotonia congenita of Von Eulenburg | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25404 | This variant lies on Chromosome 17 and affects the gene SCN4A (sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 16 | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25405 | Here’s a variant in SCN4A (sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hyperkalemic periodic paralysis | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25406 | Here is a mutation in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Potassium-aggravated myotonia | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25407 | This alteration in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Paramyotonia congenita of Von Eulenburg | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25408 | This mutation is located in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypokalemic periodic paralysis, type 1 | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25409 | A change on Chromosome 17 affects gene SCN4A (sodium voltage-gated channel alpha subunit 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 16 | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25410 | Gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperkalemic periodic paralysis | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25411 | This variant impacts the gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypokalemic periodic paralysis, type 2 | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25412 | A change on Chromosome 17 affects gene SCN4A (sodium voltage-gated channel alpha subunit 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyperkalemic periodic paralysis | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... | ACAGCAGGTAAATACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCT... |
Task1_train_25413 | A variant on Chromosome 17 in gene SCN4A (sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hyperkalemic periodic paralysis | ACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCTGGCAGGGCATATG... | ACAATCAGTGCCTCCCGGTAAATACAATCAGTGGCTCCCATTTCAAAGACAAAGAAAAGGGACTGGAGTGGGTGGCAGCCCCATGGAGACCCTGGATTCATGCCGGGGAGGGTGGCTGAACCTCCCTCCCACACCCAGTAATTAGCACACTGAGTGTCACTCAAAGCCTCCCCAGTCTGCACCTCCACCCCTACCCTGTGCTTCTGCAGGTGCCCAAACAGTGTCTGAGGCCCAAAACTTCTCACAGTGGTCCCAGGAACGGCAGGGTGGAGAGGCCTCCTCCCCCAGCATTCCCTGGGTACCCTCTGGCAGGGCATATG... |
Task1_train_25414 | Gene SCN4A (sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital myopathy 22B, severe fetal | CCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCCTCTATCTCCTTTCCCTGAGTCCAGACCTTC... | CCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCCTCTATCTCCTTTCCCTGAGTCCAGACCTTC... |
Task1_train_25415 | Given a variant located on Chromosome 17 and affecting SCN4A (sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Congenital myopathy 22A, classic | AAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCCTCTATCTCCTTTCCCTGAGTCCAGACCTTCTCCAGCTCCTCCTGGTGCTTT... | AAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCCTCTATCTCCTTTCCCTGAGTCCAGACCTTCTCCAGCTCCTCCTGGTGCTTT... |
Task1_train_25416 | A variant found in Chromosome 17 affects SCN4A (sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperkalemic periodic paralysis | TCCGCCCGGTCTTGATGCACTCATAACCCTCAGGGCAGTGCCTAGGAATAGGACAGGGGGCTGGGTTTAGGGTGGGAGGAGCACTCCAGCTGGGGGCAGATAGGGACCCCAAGGGAAAAATTCCGTCAGTTCTGCCTGTGTCCCCCAAACAGAAAAGTATTCCATCCATGCCCACAGGTTTCCCTGCACTCCCATGCCCCCCAGGTCCTCATCTCTAATCAGCTCCCACCTTCCAAGACCCCTGGGGTGCCTTTTCTGCATCCCTTAGCATCACTCACCCAGCATCACTGCTGTTCCCACAGAGCAGGGCATCGTTGGAG... | TCCGCCCGGTCTTGATGCACTCATAACCCTCAGGGCAGTGCCTAGGAATAGGACAGGGGGCTGGGTTTAGGGTGGGAGGAGCACTCCAGCTGGGGGCAGATAGGGACCCCAAGGGAAAAATTCCGTCAGTTCTGCCTGTGTCCCCCAAACAGAAAAGTATTCCATCCATGCCCACAGGTTTCCCTGCACTCCCATGCCCCCCAGGTCCTCATCTCTAATCAGCTCCCACCTTCCAAGACCCCTGGGGTGCCTTTTCTGCATCCCTTAGCATCACTCACCCAGCATCACTGCTGTTCCCACAGAGCAGGGCATCGTTGGAG... |
Task1_train_25417 | This sequence change occurs on Chromosome 17, altering SCN4A (sodium voltage-gated channel alpha subunit 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperkalemic periodic paralysis | GTGGGAGGAGCACTCCAGCTGGGGGCAGATAGGGACCCCAAGGGAAAAATTCCGTCAGTTCTGCCTGTGTCCCCCAAACAGAAAAGTATTCCATCCATGCCCACAGGTTTCCCTGCACTCCCATGCCCCCCAGGTCCTCATCTCTAATCAGCTCCCACCTTCCAAGACCCCTGGGGTGCCTTTTCTGCATCCCTTAGCATCACTCACCCAGCATCACTGCTGTTCCCACAGAGCAGGGCATCGTTGGAGCCCTCCAGGAAGTAGAAGTTCCCTTTGGGAGTCAGAGGCCACAAAGGAGGCAAGTCACCCACATGGACACA... | GTGGGAGGAGCACTCCAGCTGGGGGCAGATAGGGACCCCAAGGGAAAAATTCCGTCAGTTCTGCCTGTGTCCCCCAAACAGAAAAGTATTCCATCCATGCCCACAGGTTTCCCTGCACTCCCATGCCCCCCAGGTCCTCATCTCTAATCAGCTCCCACCTTCCAAGACCCCTGGGGTGCCTTTTCTGCATCCCTTAGCATCACTCACCCAGCATCACTGCTGTTCCCACAGAGCAGGGCATCGTTGGAGCCCTCCAGGAAGTAGAAGTTCCCTTTGGGAGTCAGAGGCCACAAAGGAGGCAAGTCACCCACATGGACACA... |
Task1_train_25418 | Assess the clinical impact of this variant on gene SCN4A (sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Muscular channelopathy | AAAACTTTAATCCCACGTATCCTTAACATATTTGACCACAGAACCCTTTTCCTTAAAATGCCTAGTAGCACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGA... | AAAACTTTAATCCCACGTATCCTTAACATATTTGACCACAGAACCCTTTTCCTTAAAATGCCTAGTAGCACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGA... |
Task1_train_25419 | This variant affects gene SCN4A (sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hyperkalemic periodic paralysis | AAAACTTTAATCCCACGTATCCTTAACATATTTGACCACAGAACCCTTTTCCTTAAAATGCCTAGTAGCACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGA... | AAAACTTTAATCCCACGTATCCTTAACATATTTGACCACAGAACCCTTTTCCTTAAAATGCCTAGTAGCACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGA... |
Task1_train_25420 | Here is a variant affecting SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hyperkalemic periodic paralysis | TCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACTTCTGCCTCCTCGATTCAAGTGATTCTCCTGCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACATGCCACCACGCCCAGCTAATTTTTGTATTTTGAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAGAGTCCTGACCCCAAGTGATTCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGGGCCACCACACCTGGCCTCAGGTACTTTCTCATATTAGGATTTAACAATTTTCCCTCTTCCCAGAGCCTGA... | TCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACTTCTGCCTCCTCGATTCAAGTGATTCTCCTGCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACATGCCACCACGCCCAGCTAATTTTTGTATTTTGAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAGAGTCCTGACCCCAAGTGATTCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGGGCCACCACACCTGGCCTCAGGTACTTTCTCATATTAGGATTTAACAATTTTCCCTCTTCCCAGAGCCTGA... |
Task1_train_25421 | A mutation found in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Paramyotonia congenita of Von Eulenburg | CTGGTGTGTTCCTAATTGAGCTCTCAGAGCTTGGACTTTTCCTCATGGAGCCTTTTTGTGTCTCTCTCTTCTCTGCTCTGTCTGCTTATTTTATTGAGCACACACGTGTATATCACAAACCATGGGCCAGGGGCTGTGAGGGCCTTACAGATATTAAGGCATTTAATCCTTACAACAATCCAAGGAGTGGTACTATGAGTCTCCATATGCCACAGATAAGGAAACTGAGACATGGACAGGGCGAGGCACTTGCCCAAAGTTAAAGTTAGGAAGTGGTAAAGGTGAGAATTGAACCCAGGCAGTCAGGCTCCAGAATCTGT... | CTGGTGTGTTCCTAATTGAGCTCTCAGAGCTTGGACTTTTCCTCATGGAGCCTTTTTGTGTCTCTCTCTTCTCTGCTCTGTCTGCTTATTTTATTGAGCACACACGTGTATATCACAAACCATGGGCCAGGGGCTGTGAGGGCCTTACAGATATTAAGGCATTTAATCCTTACAACAATCCAAGGAGTGGTACTATGAGTCTCCATATGCCACAGATAAGGAAACTGAGACATGGACAGGGCGAGGCACTTGCCCAAAGTTAAAGTTAGGAAGTGGTAAAGGTGAGAATTGAACCCAGGCAGTCAGGCTCCAGAATCTGT... |
Task1_train_25422 | Given this variant in gene MILR1, POLG2 (mast cell immunoglobulin like receptor 1| DNA polymerase gamma 2, accessory subunit) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; POLG2-related disorder | TTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCGCAGGTAATCCACCTGCCTCAGCCTCCCAAAGGGTTGGGATTACAAGCGTCAGCCACTGGCCAACTCAGTGCTATTCTTATTTCATCTCCCACCACTTAAAAAAGTTTGTTTTAAACAGGAGAATTATAAAGCAAGTCTCAATTACCATAAATGTATGTATC... | TTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCGCAGGTAATCCACCTGCCTCAGCCTCCCAAAGGGTTGGGATTACAAGCGTCAGCCACTGGCCAACTCAGTGCTATTCTTATTTCATCTCCCACCACTTAAAAAAGTTTGTTTTAAACAGGAGAATTATAAAGCAAGTCTCAATTACCATAAATGTATGTATC... |
Task1_train_25423 | The following genetic variant occurs in MILR1, POLG2 (mast cell immunoglobulin like receptor 1| DNA polymerase gamma 2, accessory subunit) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCGCAGGTAATCCACCTGCCTCAGCCTCCCAAAGGGTTGGGATTACAAGCGTCAGCCACTGGCCAACTCAGTGCTATTCTTATTTCATCTCCCACCACTTAAAAAAGTTTGTTTTAAACAGGAGAATTATAAAGCAAGTCTCAATTACCATAAATGTATGTATCTGTCAGACAAGGATTTTTTTAAAAAGAAAAATATAAACATACTACCATTATCACA... | CCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCGCAGGTAATCCACCTGCCTCAGCCTCCCAAAGGGTTGGGATTACAAGCGTCAGCCACTGGCCAACTCAGTGCTATTCTTATTTCATCTCCCACCACTTAAAAAAGTTTGTTTTAAACAGGAGAATTATAAAGCAAGTCTCAATTACCATAAATGTATGTATCTGTCAGACAAGGATTTTTTTAAAAAGAAAAATATAAACATACTACCATTATCACA... |
Task1_train_25424 | This mutation occurs in POLG2, MILR1 (DNA polymerase gamma 2, accessory subunit| mast cell immunoglobulin like receptor 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | TTCATCCTGACAGTCACTGCTGCTGAAGTTAGATGGACTCATGGCAAACTGGAAAAGAAAATTTAAGTTTGTCTTAACATATTTAAATAAACACTAATTTAACTCCCATAATTATCTGTAAGAATTTAAATTGTCCGATACTTTTTATTCAGCAAATGTGCGAAACTAGTCAAGTCCCGAATACAAATTTTAAAGTTTATTCTAATTTACATTTTTTTTTGAGATGTGTCTCATTCTGTTGCCCAGGTTAGAGTGCAGTGGCTAGTCACAGGTACAATCATAGCTCACTGCTGCCTCCTACTGCTGGCCTCAAGCAATCC... | TTCATCCTGACAGTCACTGCTGCTGAAGTTAGATGGACTCATGGCAAACTGGAAAAGAAAATTTAAGTTTGTCTTAACATATTTAAATAAACACTAATTTAACTCCCATAATTATCTGTAAGAATTTAAATTGTCCGATACTTTTTATTCAGCAAATGTGCGAAACTAGTCAAGTCCCGAATACAAATTTTAAAGTTTATTCTAATTTACATTTTTTTTTGAGATGTGTCTCATTCTGTTGCCCAGGTTAGAGTGCAGTGGCTAGTCACAGGTACAATCATAGCTCACTGCTGCCTCCTACTGCTGGCCTCAAGCAATCC... |
Task1_train_25425 | The gene RGS9 (regulator of G protein signaling 9), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CTGCCTCCCAGCGTACTGAATGAGAGAGGCGACCTGTGTCTGCCTGTGGACAAGCATGTGCGGACGCTGGCTCTCCCTGGAGGAGAAGGCAGGGAATCTGGCCAGGAAGAGGGTTGTCCTAGGAGGGCTTGGGGAGGAGAGATGGATGGCCGCTGAATTTTAAATAAAATGGGGAGCATGGTATTGAAGACAGGTAGAGATTGCTGGCAAGAAGAAAAATGTGTGTTCTGTGTAAGAACCGTTGATCAGAGGGCACTGGGTGGGTGACAACTGGAACTCCCCATTAAAGTGGGAAGCCCTGTTCTTTTTTGTGGATCCTA... | CTGCCTCCCAGCGTACTGAATGAGAGAGGCGACCTGTGTCTGCCTGTGGACAAGCATGTGCGGACGCTGGCTCTCCCTGGAGGAGAAGGCAGGGAATCTGGCCAGGAAGAGGGTTGTCCTAGGAGGGCTTGGGGAGGAGAGATGGATGGCCGCTGAATTTTAAATAAAATGGGGAGCATGGTATTGAAGACAGGTAGAGATTGCTGGCAAGAAGAAAAATGTGTGTTCTGTGTAAGAACCGTTGATCAGAGGGCACTGGGTGGGTGACAACTGGAACTCCCCATTAAAGTGGGAAGCCCTGTTCTTTTTTGTGGATCCTA... |
Task1_train_25426 | This sequence change occurs on Chromosome 17, altering AXIN2 (axin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Non-syndromic oligodontia | CCCTGGAGAAGCAGCCTTTACCACGGCTCTTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCT... | CCCTGGAGAAGCAGCCTTTACCACGGCTCTTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCT... |
Task1_train_25427 | A sequence alteration has been identified in CEP112 (centrosomal protein 112) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Spermatogenic failure 44 | AACTTTAAAAAATTGTATTCTCTAAGAACGACTAAGTACAACATACACAAAATTATTTTCCTTTTGAGCAAGAATGCATTTAGCCTGTTTCCATTGCTTACTGGCATTCCCTTGACAGCAATTCCAATTAGTAAAACGTTCCAAGAAAGACACGAAATATGAGAAATACAATCCTAAATTACAGCATTTGAGGAGGTCATATAGTCCTCATACTTAATGTTTCAATAGGAAGAAATTCAATTAATAGCCTCATTGTACTATCCCTGTGGCTTTATTATACGTAATAGAACTAAAATTTCCCTTTTGTTATGATTGGATGA... | AACTTTAAAAAATTGTATTCTCTAAGAACGACTAAGTACAACATACACAAAATTATTTTCCTTTTGAGCAAGAATGCATTTAGCCTGTTTCCATTGCTTACTGGCATTCCCTTGACAGCAATTCCAATTAGTAAAACGTTCCAAGAAAGACACGAAATATGAGAAATACAATCCTAAATTACAGCATTTGAGGAGGTCATATAGTCCTCATACTTAATGTTTCAATAGGAAGAAATTCAATTAATAGCCTCATTGTACTATCCCTGTGGCTTTATTATACGTAATAGAACTAAAATTTCCCTTTTGTTATGATTGGATGA... |
Task1_train_25428 | A variant was discovered on Chromosome 17, affecting ARSG (arylsulfatase G). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Usher syndrome, type 4 | AAATTACATGGCTAGGATGCAAAGGGACACATTTCCATGAAAAAAATTTTTTGAAATTTTTTCTAACATTTTATTATGAAAATTACAAACATACAGCAAAATTAAAAGAGTTCTTTAGTAAGCACCCATATATCTGCTACCTAGATTCTATTATTAACTTTTTAAAACCATTTCCTTTTCCCCCAGATTAACTTCTGTCAAGAATTTTGGCTGGGCCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTAAGGAGGCCAAGGCGGGCAGATCACTTGAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... | AAATTACATGGCTAGGATGCAAAGGGACACATTTCCATGAAAAAAATTTTTTGAAATTTTTTCTAACATTTTATTATGAAAATTACAAACATACAGCAAAATTAAAAGAGTTCTTTAGTAAGCACCCATATATCTGCTACCTAGATTCTATTATTAACTTTTTAAAACCATTTCCTTTTCCCCCAGATTAACTTCTGTCAAGAATTTTGGCTGGGCCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTAAGGAGGCCAAGGCGGGCAGATCACTTGAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... |
Task1_train_25429 | Consider a variant on Chromosome 17 in gene ARSG (arylsulfatase G). Determine its clinical classification and disease relevance. | Pathogenic; Usher syndrome | AAATTACATGGCTAGGATGCAAAGGGACACATTTCCATGAAAAAAATTTTTTGAAATTTTTTCTAACATTTTATTATGAAAATTACAAACATACAGCAAAATTAAAAGAGTTCTTTAGTAAGCACCCATATATCTGCTACCTAGATTCTATTATTAACTTTTTAAAACCATTTCCTTTTCCCCCAGATTAACTTCTGTCAAGAATTTTGGCTGGGCCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTAAGGAGGCCAAGGCGGGCAGATCACTTGAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... | AAATTACATGGCTAGGATGCAAAGGGACACATTTCCATGAAAAAAATTTTTTGAAATTTTTTCTAACATTTTATTATGAAAATTACAAACATACAGCAAAATTAAAAGAGTTCTTTAGTAAGCACCCATATATCTGCTACCTAGATTCTATTATTAACTTTTTAAAACCATTTCCTTTTCCCCCAGATTAACTTCTGTCAAGAATTTTGGCTGGGCCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTAAGGAGGCCAAGGCGGGCAGATCACTTGAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... |
Task1_train_25430 | This alteration in ARSG (arylsulfatase G) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TGGCTCTATTCATCTATTTGGGGTCTTAATTACATGCCATTGTGCATTGTTGTGACTTACATTTGCTCACGTCTTGTCACTCAATGTCTTGTTTCTGCATGTTCCTTGAGGATAGGATAATGGCTAGAATTCTTTTGTATTTCTCAACAATGTCTAAAAAAGGACTGGGCATACAGTAATAGGTAATAGATTCAGTCAATTCTTTTTTTTAATTTTTTGATACAGACTCTTGCTCTGTCGTCCAGACTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAACCTCCAACCCCTCGGTTCAAGCGATTCTCCTGCCTCAGC... | TGGCTCTATTCATCTATTTGGGGTCTTAATTACATGCCATTGTGCATTGTTGTGACTTACATTTGCTCACGTCTTGTCACTCAATGTCTTGTTTCTGCATGTTCCTTGAGGATAGGATAATGGCTAGAATTCTTTTGTATTTCTCAACAATGTCTAAAAAAGGACTGGGCATACAGTAATAGGTAATAGATTCAGTCAATTCTTTTTTTTAATTTTTTGATACAGACTCTTGCTCTGTCGTCCAGACTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAACCTCCAACCCCTCGGTTCAAGCGATTCTCCTGCCTCAGC... |
Task1_train_25431 | A genetic alteration is present in ARSG (arylsulfatase G) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTTACATTTGCTCACGTCTTGTCACTCAATGTCTTGTTTCTGCATGTTCCTTGAGGATAGGATAATGGCTAGAATTCTTTTGTATTTCTCAACAATGTCTAAAAAAGGACTGGGCATACAGTAATAGGTAATAGATTCAGTCAATTCTTTTTTTTAATTTTTTGATACAGACTCTTGCTCTGTCGTCCAGACTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAACCTCCAACCCCTCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCACCACCATGCCTGGCTGATTTTTGTA... | CTTACATTTGCTCACGTCTTGTCACTCAATGTCTTGTTTCTGCATGTTCCTTGAGGATAGGATAATGGCTAGAATTCTTTTGTATTTCTCAACAATGTCTAAAAAAGGACTGGGCATACAGTAATAGGTAATAGATTCAGTCAATTCTTTTTTTTAATTTTTTGATACAGACTCTTGCTCTGTCGTCCAGACTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAACCTCCAACCCCTCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCACCACCATGCCTGGCTGATTTTTGTA... |
Task1_train_25432 | A mutation found in ARSG (arylsulfatase G) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Usher syndrome, type 4 | CTTAAGGTAAAGGAATGCTCTCGTGCTTAAAAAACAAAACAAGATAAAATAGAGCAAGAAAGGCCACCAGGAAGGCAAAACAAGTTTGCAGAAGATAAAGTCATCTTTGAAATTTGAACCAGGCATCTGGAGAGCTGTGATTCATGTGTACTTTTGACAGCTTCCTTCCTATATTGATATAAACAAGAAAGCCATAATGGGTCTTCTCAAACAAACAAAAAAAATGCATAGACAAGTTCTCCAAAGTCCATCTATGTTTCTGAGAATGAGCCATCCCACAGTTTTGCTTCCTCGTGGATTTTGGAAGTTGCCTCTGGTAA... | CTTAAGGTAAAGGAATGCTCTCGTGCTTAAAAAACAAAACAAGATAAAATAGAGCAAGAAAGGCCACCAGGAAGGCAAAACAAGTTTGCAGAAGATAAAGTCATCTTTGAAATTTGAACCAGGCATCTGGAGAGCTGTGATTCATGTGTACTTTTGACAGCTTCCTTCCTATATTGATATAAACAAGAAAGCCATAATGGGTCTTCTCAAACAAACAAAAAAAATGCATAGACAAGTTCTCCAAAGTCCATCTATGTTTCTGAGAATGAGCCATCCCACAGTTTTGCTTCCTCGTGGATTTTGGAAGTTGCCTCTGGTAA... |
Task1_train_25433 | A sequence alteration has been identified in PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Carney complex, type 1 | TTAGCAGAGCGAGGAAAGCAAACACTTACTCAAGATGACCCTAGGGGAGCCGTAACTTGGCTGGTCTAAGGGGGTGCGGTCTGAATCAGGAACAGTTTCTCAAAGTGTTTTTATTTATTTCCCAGAATGTAATCCTTTCGAAACAATTTTGTCACAACTGAATTTTCAAAAGAATGAATCTGAGTGTTTTGTTTTACATAGAGACAATGCAGCGAAAGTTTTAAAGCAGTTAAATAATTGTGTGTGGGGAGGGAAGGCTAGGTTGTTGGGCTTTACAAATAAGTACACATAGAGAATCCGGGTAACTCGATTAAAAATAT... | TTAGCAGAGCGAGGAAAGCAAACACTTACTCAAGATGACCCTAGGGGAGCCGTAACTTGGCTGGTCTAAGGGGGTGCGGTCTGAATCAGGAACAGTTTCTCAAAGTGTTTTTATTTATTTCCCAGAATGTAATCCTTTCGAAACAATTTTGTCACAACTGAATTTTCAAAAGAATGAATCTGAGTGTTTTGTTTTACATAGAGACAATGCAGCGAAAGTTTTAAAGCAGTTAAATAATTGTGTGTGGGGAGGGAAGGCTAGGTTGTTGGGCTTTACAAATAAGTACACATAGAGAATCCGGGTAACTCGATTAAAAATAT... |
Task1_train_25434 | The gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Carney complex, type 1 | AACCCCTGTGACACCCAGTTTACCTATATAACCTGCACATGTACCCCTGAACCTTAAACCCACACACACAAAAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATT... | AACCCCTGTGACACCCAGTTTACCTATATAACCTGCACATGTACCCCTGAACCTTAAACCCACACACACAAAAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATT... |
Task1_train_25435 | A sequence alteration has been identified in PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Carney complex, type 1 | AAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATTAGGGCCTCACAATGCTTTGGCTTTGTGGACAGGAATTAGGAACTGTAGATATGGGGTGAAATATCTATATA... | AAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATTAGGGCCTCACAATGCTTTGGCTTTGTGGACAGGAATTAGGAACTGTAGATATGGGGTGAAATATCTATATA... |
Task1_train_25436 | Given a variant located on Chromosome 17 and affecting PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Acrodysostosis 1 with or without hormone resistance | TATTCTTTTGTGCATTTTGTTATGTGGACTTGGAGATGTTAGAACTTGTTCTTCATGAAAGGGGAATGGGGATTTTTATAAGGTAACAGGCTTCTGCCATTGTTTATTACAGTGAATTTTTCACCTCTTCTTTGTCTTTTCTTTGAATTGGTTACATATGCTTTGTGTTTTGGATAGTAGTTTGGCCTTTGGGAATAAAAGTTATTTTCTAGTTCTTTTTCATAAAGTAAACCAAGAATTTAAATAGATTAAATTATTTCTATGAAACTTTGGAACGATATGGATGGGGAAACTATGACTTTTGAGTATTGTAGTTGTAG... | TATTCTTTTGTGCATTTTGTTATGTGGACTTGGAGATGTTAGAACTTGTTCTTCATGAAAGGGGAATGGGGATTTTTATAAGGTAACAGGCTTCTGCCATTGTTTATTACAGTGAATTTTTCACCTCTTCTTTGTCTTTTCTTTGAATTGGTTACATATGCTTTGTGTTTTGGATAGTAGTTTGGCCTTTGGGAATAAAAGTTATTTTCTAGTTCTTTTTCATAAAGTAAACCAAGAATTTAAATAGATTAAATTATTTCTATGAAACTTTGGAACGATATGGATGGGGAAACTATGACTTTTGAGTATTGTAGTTGTAG... |
Task1_train_25437 | Gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Acrodysostosis 1 with or without hormone resistance | TGGACTTGGAGATGTTAGAACTTGTTCTTCATGAAAGGGGAATGGGGATTTTTATAAGGTAACAGGCTTCTGCCATTGTTTATTACAGTGAATTTTTCACCTCTTCTTTGTCTTTTCTTTGAATTGGTTACATATGCTTTGTGTTTTGGATAGTAGTTTGGCCTTTGGGAATAAAAGTTATTTTCTAGTTCTTTTTCATAAAGTAAACCAAGAATTTAAATAGATTAAATTATTTCTATGAAACTTTGGAACGATATGGATGGGGAAACTATGACTTTTGAGTATTGTAGTTGTAGGTTTGATTTGCATTGATGGCAATC... | TGGACTTGGAGATGTTAGAACTTGTTCTTCATGAAAGGGGAATGGGGATTTTTATAAGGTAACAGGCTTCTGCCATTGTTTATTACAGTGAATTTTTCACCTCTTCTTTGTCTTTTCTTTGAATTGGTTACATATGCTTTGTGTTTTGGATAGTAGTTTGGCCTTTGGGAATAAAAGTTATTTTCTAGTTCTTTTTCATAAAGTAAACCAAGAATTTAAATAGATTAAATTATTTCTATGAAACTTTGGAACGATATGGATGGGGAAACTATGACTTTTGAGTATTGTAGTTGTAGGTTTGATTTGCATTGATGGCAATC... |
Task1_train_25438 | With a mutation on Chromosome 17 in gene KCNJ16 (potassium inwardly rectifying channel subfamily J member 16), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypokalemic tubulopathy and deafness | ACAAGTCAGACAGATAGAAACCTCCAAAGCATGGTGGCTATTGTGGACAAAATTTGTGAAAATATTTTACATTGGACCTTCCAGTAAGCATTTTCGCAGCCCTAGGTCACATCTTGAAATTATACAATTGGATCCCCCCAAATTGGGTTGAAGTGCTGACAAACGAGAGGATGTAACAGATCAAAACTGATCTGGATGATGGGTGAGTGAAGTGCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGT... | ACAAGTCAGACAGATAGAAACCTCCAAAGCATGGTGGCTATTGTGGACAAAATTTGTGAAAATATTTTACATTGGACCTTCCAGTAAGCATTTTCGCAGCCCTAGGTCACATCTTGAAATTATACAATTGGATCCCCCCAAATTGGGTTGAAGTGCTGACAAACGAGAGGATGTAACAGATCAAAACTGATCTGGATGATGGGTGAGTGAAGTGCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGT... |
Task1_train_25439 | A variant found in Chromosome 17 affects KCNJ16 (potassium inwardly rectifying channel subfamily J member 16). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypokalemic tubulopathy and deafness | GAGTGAAGTGCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCT... | GAGTGAAGTGCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCT... |
Task1_train_25440 | Located on Chromosome 17, this mutation impacts KCNJ16 (potassium inwardly rectifying channel subfamily J member 16). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypokalemic tubulopathy and deafness | GCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCTAAAGTCCCC... | GCAGGCAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCTAAAGTCCCC... |
Task1_train_25441 | With a mutation on Chromosome 17 in gene KCNJ16 (potassium inwardly rectifying channel subfamily J member 16), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypokalemic tubulopathy and deafness | CAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCTAAAGTCCCCCGTTA... | CAGATAGAGGACAGAGATAAACCCATACATGCCTTACGGGAGTTTGTGGCTTTAAGTGGAGTCCATCCTTGTAAGTGGTGCATTAAACAAAGAGTTTATTGTAAAGTGGGCCTGATCCCTGGAGGAAAAGAAAATTGATTCTTTTTCACTGGAGGGAAGTTAACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACACATATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCTTTATGTCAGGAATAGTATTTATTCATACTGCATTTTCTATGTAATAGAGAGGCAGGATTCCCTAAAGTCCCCCGTTA... |
Task1_train_25442 | This mutation occurs in KCNJ16 (potassium inwardly rectifying channel subfamily J member 16) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypokalemic tubulopathy and deafness | GCACAGGTAGACTGTGAAAAACACATATTCTAATAGTTACTAAGCTGTTAAAATTGGCTACAATACTTTTATTTTTGTTTGTTTTGCACAGGAGTAACTCAAGATGATTTTGATGTTGCAGTTTTAAATTTCACTTTGACTTGAGCTGGGAAATCCTTTGGCCTATTATACCATGGATGCTAAAAATGGTAAGAGCTGCATGTTCTGCCTTGATGTTTTCAAGACTGAATTTGGAGGGAGAAAAATTATTTTGCCTAAGGATGTCCGTGAAAGTATCAGGAAAACACTGAAAAGCCGGAGAGAAGGGTTCAATTGTAGCG... | GCACAGGTAGACTGTGAAAAACACATATTCTAATAGTTACTAAGCTGTTAAAATTGGCTACAATACTTTTATTTTTGTTTGTTTTGCACAGGAGTAACTCAAGATGATTTTGATGTTGCAGTTTTAAATTTCACTTTGACTTGAGCTGGGAAATCCTTTGGCCTATTATACCATGGATGCTAAAAATGGTAAGAGCTGCATGTTCTGCCTTGATGTTTTCAAGACTGAATTTGGAGGGAGAAAAATTATTTTGCCTAAGGATGTCCGTGAAAGTATCAGGAAAACACTGAAAAGCCGGAGAGAAGGGTTCAATTGTAGCG... |
Task1_train_25443 | A variant found in Chromosome 17 affects KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Andersen Tawil syndrome | CATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCT... | CATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCT... |
Task1_train_25444 | Consider this mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Short QT syndrome type 3 | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25445 | A mutation on Chromosome 17 affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Andersen Tawil syndrome | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25446 | The gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Atrial fibrillation, familial, 9 | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25447 | Consider this mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Short QT syndrome type 3 | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25448 | Given this variant in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Andersen Tawil syndrome | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25449 | A variant found in Chromosome 17 affects KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardiovascular phenotype | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25450 | This is a variant in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25451 | This gene mutation involves KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Andersen Tawil syndrome | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... | ACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGA... |
Task1_train_25452 | This sequence variant lies in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Short QT syndrome type 3 | AAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGAC... | AAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGAC... |
Task1_train_25453 | This genomic variant is located on Chromosome 17, within the KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Andersen Tawil syndrome | AAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGAC... | AAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGAC... |
Task1_train_25454 | A variant was discovered on Chromosome 17, affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Short QT syndrome type 3 | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... |
Task1_train_25455 | Here is a variant affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Andersen Tawil syndrome | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... |
Task1_train_25456 | This sequence change occurs on Chromosome 17, altering KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... |
Task1_train_25457 | Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Short QT syndrome type 3 | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... |
Task1_train_25458 | Here is a mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Andersen Tawil syndrome | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... | CCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCT... |
Task1_train_25459 | Chromosome 17 houses a mutation in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Andersen Tawil syndrome | CTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTA... | CTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTA... |
Task1_train_25460 | Here is a mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Short QT syndrome type 3 | CTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTA... | CTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTA... |
Task1_train_25461 | The following genetic variant occurs in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Andersen Tawil syndrome | TTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAG... | TTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAG... |
Task1_train_25462 | Given this context: Chromosome 17, gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cardiovascular phenotype | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... |
Task1_train_25463 | Mutation context: Chromosome 17, Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Andersen Tawil syndrome | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... |
Task1_train_25464 | A variant was discovered on Chromosome 17, affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Andersen Tawil syndrome | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... |
Task1_train_25465 | Mutation context: Chromosome 17, Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short QT syndrome type 3 | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... | ATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGG... |
Task1_train_25466 | A variant found in Chromosome 17 affects KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Andersen Tawil syndrome | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... |
Task1_train_25467 | Here’s a variant in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Short QT syndrome type 3 | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... |
Task1_train_25468 | A mutation found in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Andersen Tawil syndrome | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... | GAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATT... |
Task1_train_25469 | A variant was discovered in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Short QT syndrome type 3 | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... |
Task1_train_25470 | Here’s a variant in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Andersen Tawil syndrome | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... |
Task1_train_25471 | Mutation context: Chromosome 17, Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short QT syndrome type 3 | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... |
Task1_train_25472 | With a mutation on Chromosome 17 in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Andersen Tawil syndrome | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... | AAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTT... |
Task1_train_25473 | A variant found in Chromosome 17 affects KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Short QT syndrome type 3 | AAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAAT... | AAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAAT... |
Task1_train_25474 | Here is a variant affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Andersen Tawil syndrome | AAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAAT... | AAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAAT... |
Task1_train_25475 | Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Andersen Tawil syndrome | TCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCT... | TCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCT... |
Task1_train_25476 | This variant impacts the gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Andersen Tawil syndrome | TTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACAT... | TTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACAT... |
Task1_train_25477 | This mutation is located in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Andersen Tawil syndrome | TAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATG... | TAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATG... |
Task1_train_25478 | This alteration in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Short QT syndrome type 3 | TAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATG... | TAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATG... |
Task1_train_25479 | This mutation is located in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Andersen Tawil syndrome | AAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGA... | AAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGA... |
Task1_train_25480 | Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Short QT syndrome type 3 | AAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGA... | AAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGA... |
Task1_train_25481 | This variant impacts the gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Andersen Tawil syndrome | ACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGC... | ACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGC... |
Task1_train_25482 | A variant affecting Chromosome 17, within the gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiovascular phenotype | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25483 | A mutation on Chromosome 17 affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Short QT syndrome type 3 | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25484 | A genetic alteration is present in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Andersen Tawil syndrome | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25485 | A genomic change on Chromosome 17 affects KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Atrial fibrillation, familial, 9 | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25486 | Mutation context: Chromosome 17, Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short QT syndrome type 3 | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25487 | Chromosome 17 houses a mutation in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Andersen Tawil syndrome | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25488 | Consider this mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Andersen Tawil syndrome | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... | ACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTG... |
Task1_train_25489 | Gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGAT... | TCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGAT... |
Task1_train_25490 | Given this variant in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Short QT syndrome type 3 | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... |
Task1_train_25491 | A mutation in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Andersen Tawil syndrome | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... |
Task1_train_25492 | This alteration in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiovascular phenotype | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... |
Task1_train_25493 | Here is a variant affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Short QT syndrome type 3 | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... |
Task1_train_25494 | This mutation occurs in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Andersen Tawil syndrome | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... | CCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCAC... |
Task1_train_25495 | A variant has been detected on Chromosome 17 in KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Short QT syndrome type 3 | CATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTAT... | CATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTAT... |
Task1_train_25496 | This variant impacts the gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Andersen Tawil syndrome | TCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTC... | TCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTC... |
Task1_train_25497 | The variant affects gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Andersen Tawil syndrome | AATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAG... | AATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAG... |
Task1_train_25498 | A mutation on Chromosome 17 affecting KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Andersen Tawil syndrome | TTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGAC... | TTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGAC... |
Task1_train_25499 | This variant affects the gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Short QT syndrome type 3 | TTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGAC... | TTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGAC... |
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