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_28000 | The gene GNAS (GNAS complex locus) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pituitary adenoma 3, multiple types | CAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCA... | CAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCA... |
Task1_train_28001 | With a mutation on Chromosome 20 in gene GNAS (GNAS complex locus), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; GNAS-related disorder | GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTT... | GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTT... |
Task1_train_28002 | A mutation found in GNAS (GNAS complex locus) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pseudohypoparathyroidism type I A | GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTT... | GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTT... |
Task1_train_28003 | This mutation is located in gene GNAS (GNAS complex locus) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pseudohypoparathyroidism | GAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCAT... | GAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCAT... |
Task1_train_28004 | Here is a variant affecting GNAS (GNAS complex locus) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pseudohypoparathyroidism type I A | ATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGC... | ATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGC... |
Task1_train_28005 | The following genetic variant occurs in GNAS (GNAS complex locus) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pseudohypoparathyroidism type I A | TTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTC... | TTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTC... |
Task1_train_28006 | This mutation occurs in GNAS (GNAS complex locus) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pseudohypoparathyroidism type I A | GCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAAT... | GCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAAT... |
Task1_train_28007 | A variant has been detected on Chromosome 20 in GNAS (GNAS complex locus). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pseudohypoparathyroidism type I A | ATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATC... | ATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATC... |
Task1_train_28008 | A variant was discovered on Chromosome 20, affecting GNAS (GNAS complex locus). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pseudohypoparathyroidism type I A | TTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCC... | TTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCC... |
Task1_train_28009 | A variant affecting Chromosome 20, within the gene GNAS (GNAS complex locus), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pseudohypoparathyroidism type I A | TTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTT... | TTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTT... |
Task1_train_28010 | A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | TGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAA... | TGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAA... |
Task1_train_28011 | A variant was discovered in gene GNAS (GNAS complex locus), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pseudohypoparathyroidism type I A | TTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGT... | TTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGT... |
Task1_train_28012 | Consider this mutation in GNAS (GNAS complex locus) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Pseudohypoparathyroidism type I A | AACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGT... | AACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGT... |
Task1_train_28013 | A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pseudohypoparathyroidism type 1C | TCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAG... | TCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAG... |
Task1_train_28014 | A variant was discovered on Chromosome 20, affecting GNAS (GNAS complex locus). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pseudohypoparathyroidism type I A | GCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGT... | GCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGT... |
Task1_train_28015 | The following genetic variant occurs in TUBB1 (tubulin beta 1 class VI) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Macrothrombocytopenia, isolated, 1, autosomal dominant | ATTAGTTGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAG... | ATTAGTTGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAG... |
Task1_train_28016 | This variant affects gene ATP5F1E, SLMO2-ATP5E (ATP synthase F1 subunit epsilon| SLMO2-ATP5E readthrough) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | TTTAGTATTTAATAATTATTTCCATTTGTTACTGATAACCATGTCATTATTCTGACATGACAACAATTCAAAAATAAGGGACTACGAAGCCTCAATGACAGCAGATAATTTTGATCACCAATTAATGTCATGAAACAACTATTTTGAGACATTTTCAAAATGCTTTCTGTATCCCTTTGGTCACTAAATATTAAATCTGGCTTCCCCTGCTTTTAAGAAACCCTGGTTCACATGGCCATAATCATGCAGCTGTGCAGACAGTTCCTTTAAAGAAAATGAAAAAGTCTCACAAACTAAAATCAAGAGTAACAGTGAACCAT... | TTTAGTATTTAATAATTATTTCCATTTGTTACTGATAACCATGTCATTATTCTGACATGACAACAATTCAAAAATAAGGGACTACGAAGCCTCAATGACAGCAGATAATTTTGATCACCAATTAATGTCATGAAACAACTATTTTGAGACATTTTCAAAATGCTTTCTGTATCCCTTTGGTCACTAAATATTAAATCTGGCTTCCCCTGCTTTTAAGAAACCCTGGTTCACATGGCCATAATCATGCAGCTGTGCAGACAGTTCCTTTAAAGAAAATGAAAAAGTCTCACAAACTAAAATCAAGAGTAACAGTGAACCAT... |
Task1_train_28017 | This genomic variant is located on Chromosome 20, within the EDN3 (endothelin 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Waardenburg syndrome type 4B | TAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTT... | TAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTT... |
Task1_train_28018 | A variant was discovered on Chromosome 20, affecting EDN3 (endothelin 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Waardenburg syndrome type 4B | TCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGC... | TCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGC... |
Task1_train_28019 | This variant lies on Chromosome 20 and affects the gene EDN3 (endothelin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Waardenburg syndrome type 4B | GGTTCAGCTCAATACAGGGCTGGATCCTGCCCTCTGTCTCCGTTTCCTGAGCACAGATGGCTCATCAGCGGGGCCTGTCTCTGCCTGGAGGGATCCCACCACCTCTGTTTCTGAGGAACTTGGGTGGGAGGGAGTTAGTGGGGAGAACAAGAGTCAACGAACAGGGTGGGGTCAGTTTTAGGCTCTTGTGTTCAACCCAGCAGGGAGGCGGGGGCGGGGGACTCCCTCCAAGCCTTAGGTCACTATGGGGCTTCCTGGCCCAATTTGCCCTCACTGTCGCAAAAAGGCTTTATGGTGTGTGTTTCAAATGAAAAGAAATT... | GGTTCAGCTCAATACAGGGCTGGATCCTGCCCTCTGTCTCCGTTTCCTGAGCACAGATGGCTCATCAGCGGGGCCTGTCTCTGCCTGGAGGGATCCCACCACCTCTGTTTCTGAGGAACTTGGGTGGGAGGGAGTTAGTGGGGAGAACAAGAGTCAACGAACAGGGTGGGGTCAGTTTTAGGCTCTTGTGTTCAACCCAGCAGGGAGGCGGGGGCGGGGGACTCCCTCCAAGCCTTAGGTCACTATGGGGCTTCCTGGCCCAATTTGCCCTCACTGTCGCAAAAAGGCTTTATGGTGTGTGTTTCAAATGAAAAGAAATT... |
Task1_train_28020 | The gene GATA5 (GATA binding protein 5) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital heart defects, multiple types, 5 | AGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGC... | AGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGC... |
Task1_train_28021 | Gene GATA5 (GATA binding protein 5) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital heart defects, multiple types, 5 | TCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGG... | TCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGG... |
Task1_train_28022 | A variant was discovered on Chromosome 20, affecting GATA5 (GATA binding protein 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital heart defects, multiple types, 5 | GCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTAC... | GCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTAC... |
Task1_train_28023 | A variant affecting Chromosome 20, within the gene GATA5 (GATA binding protein 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital heart defects, multiple types, 5 | GGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGC... | GGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGC... |
Task1_train_28024 | The gene SLC17A9 (solute carrier family 17 member 9) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Porokeratosis 8, disseminated superficial actinic type | TTAGGTGTCTGGTAGGGGAGGCCAAGGGAGGCTGGCGCCCATGTGCAACCTGAGGCATGGACGAGGCCTGCTGACCCCTCTGGAACCACCCCCAAATCCCCAATCCTTTGGCAACGGGTGGCGCCTCCCGCCCTGATAGCCATCAGTTTGAAACCGTTGCTCCCTCAGATCTCATCCTGGCCTTGGGTGTCCTGGCCCAAAGCCGGCCGGTGTCCAGGCACAACAGAGTCCCCTGGAGACGGCTCTTCCGGAAGCCTGCTGTCTGGTGAGCTGGGACCTGTGCCACCCCTTGGAGCAGCGGCAGGGCCGGTGACCATGGG... | TTAGGTGTCTGGTAGGGGAGGCCAAGGGAGGCTGGCGCCCATGTGCAACCTGAGGCATGGACGAGGCCTGCTGACCCCTCTGGAACCACCCCCAAATCCCCAATCCTTTGGCAACGGGTGGCGCCTCCCGCCCTGATAGCCATCAGTTTGAAACCGTTGCTCCCTCAGATCTCATCCTGGCCTTGGGTGTCCTGGCCCAAAGCCGGCCGGTGTCCAGGCACAACAGAGTCCCCTGGAGACGGCTCTTCCGGAAGCCTGCTGTCTGGTGAGCTGGGACCTGTGCCACCCCTTGGAGCAGCGGCAGGGCCGGTGACCATGGG... |
Task1_train_28025 | Given this variant in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... |
Task1_train_28026 | The gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1 | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... |
Task1_train_28027 | With a mutation on Chromosome 20 in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Inborn genetic diseases | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... | GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGG... |
Task1_train_28028 | Gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy | AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGC... | AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGC... |
Task1_train_28029 | Gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1 | AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGC... | AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGC... |
Task1_train_28030 | Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCAC... | GCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCAC... |
Task1_train_28031 | This alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGG... | GGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGG... |
Task1_train_28032 | A mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCAGAGGGATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCAC... | CCAGAGGGATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCAC... |
Task1_train_28033 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACG... | GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACG... |
Task1_train_28034 | Here’s a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACG... | GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACG... |
Task1_train_28035 | This mutation occurs in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGT... | GAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGT... |
Task1_train_28036 | This is a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACT... | GGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACT... |
Task1_train_28037 | Located on Chromosome 20, this mutation impacts KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... |
Task1_train_28038 | This alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... |
Task1_train_28039 | Here is a mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... |
Task1_train_28040 | With a mutation on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... |
Task1_train_28041 | The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Seizures, benign familial neonatal, 1 | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... | GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTC... |
Task1_train_28042 | A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCT... | GCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCT... |
Task1_train_28043 | This genomic variant is located on Chromosome 20, within the KCNQ2 (potassium voltage-gated channel subfamily Q member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCG... | CTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCG... |
Task1_train_28044 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; KCNQ2-related disorder | TCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGG... | TCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGG... |
Task1_train_28045 | A variant was discovered on Chromosome 20, affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCC... | GAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCC... |
Task1_train_28046 | Consider a variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine its clinical classification and disease relevance. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCT... | AAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCT... |
Task1_train_28047 | Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTG... | TCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTG... |
Task1_train_28048 | Assess the clinical impact of this variant on gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... |
Task1_train_28049 | A change on Chromosome 20 affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... |
Task1_train_28050 | This genomic variant is located on Chromosome 20, within the KCNQ2 (potassium voltage-gated channel subfamily Q member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Developmental and epileptic encephalopathy, 7 | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... | ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGG... |
Task1_train_28051 | Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 7 | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... |
Task1_train_28052 | A sequence alteration has been identified in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Seizures, benign familial neonatal, 1 | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... |
Task1_train_28053 | This variant impacts the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... |
Task1_train_28054 | A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Seizure | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... | CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGG... |
Task1_train_28055 | This variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGT... | GGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGT... |
Task1_train_28056 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAG... | GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAG... |
Task1_train_28057 | A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAG... | GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAG... |
Task1_train_28058 | This is a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACC... | GGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACC... |
Task1_train_28059 | This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAA... | CCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAA... |
Task1_train_28060 | A variant was discovered in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGA... | GCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGA... |
Task1_train_28061 | This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACC... | AATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACC... |
Task1_train_28062 | An alteration has been detected in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCC... | ATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCC... |
Task1_train_28063 | This gene mutation involves KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGG... | AGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGG... |
Task1_train_28064 | An alteration has been detected in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCA... | GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCA... |
Task1_train_28065 | Here is a genetic alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Seizure | GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCA... | GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCA... |
Task1_train_28066 | A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTCATCAGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGC... | CCTCATCAGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGC... |
Task1_train_28067 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Seizure | AGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGA... | AGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGA... |
Task1_train_28068 | The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCT... | GGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCT... |
Task1_train_28069 | A mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... | GCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... |
Task1_train_28070 | A variant has been detected on Chromosome 20 in KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA... | AGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA... |
Task1_train_28071 | The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC... | CGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC... |
Task1_train_28072 | This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCG... | GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCG... |
Task1_train_28073 | This gene mutation involves KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; KCNQ2-related disorder | GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCG... | GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCG... |
Task1_train_28074 | Given this context: Chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy, 7 | TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCA... | TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCA... |
Task1_train_28075 | Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCA... | TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCA... |
Task1_train_28076 | A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 7 | CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGC... | CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGC... |
Task1_train_28077 | A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGC... | CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGC... |
Task1_train_28078 | This variant lies on Chromosome 20 and affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28079 | A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; KCNQ2-related disorder | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28080 | The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Seizures, benign familial neonatal, 1 | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28081 | A variant was discovered in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28082 | A genomic change on Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28083 | A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 10 | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... | GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCG... |
Task1_train_28084 | The following genetic variant occurs in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... |
Task1_train_28085 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Seizures, benign familial neonatal, 1 | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... |
Task1_train_28086 | Given this variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... |
Task1_train_28087 | Consider this mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... |
Task1_train_28088 | A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... |
Task1_train_28089 | Consider a variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine its clinical classification and disease relevance. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGC... | TCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGC... |
Task1_train_28090 | This is a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGC... | GCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGC... |
Task1_train_28091 | A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; KCNQ2-related disorder | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... |
Task1_train_28092 | Here is a genetic alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 7 | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... |
Task1_train_28093 | A variant was discovered on Chromosome 20, affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Seizure | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... | CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTC... |
Task1_train_28094 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Epileptic encephalopathy | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... |
Task1_train_28095 | A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 7 | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... |
Task1_train_28096 | A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... | CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCC... |
Task1_train_28097 | Given this variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... |
Task1_train_28098 | Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Epileptic encephalopathy | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... |
Task1_train_28099 | This variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Seizure | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... |
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