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_28100 | 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 | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... |
Task1_train_28101 | 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; KCNQ2-related disorder | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... |
Task1_train_28102 | A variant found in Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy, 7 | CTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCT... | CTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCT... |
Task1_train_28103 | 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; Seizure | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... |
Task1_train_28104 | 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; Generalized hypotonia | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... |
Task1_train_28105 | The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... | ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCA... |
Task1_train_28106 | 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; Early infantile epileptic encephalopathy with suppression bursts | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... |
Task1_train_28107 | 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; Developmental and epileptic encephalopathy, 7 | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... |
Task1_train_28108 | 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; Seizures, benign familial neonatal, 1 | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... |
Task1_train_28109 | 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; Developmental and epileptic encephalopathy, 7 | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... | TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAG... |
Task1_train_28110 | 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; Seizures, benign familial neonatal, 1 | AGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGG... | AGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGG... |
Task1_train_28111 | The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 7 | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... |
Task1_train_28112 | 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; Early infantile epileptic encephalopathy with suppression bursts | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... |
Task1_train_28113 | 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 | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... | GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGA... |
Task1_train_28114 | 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; not provided | GCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATT... | GCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATT... |
Task1_train_28115 | 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; Epileptic encephalopathy | CACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACA... | CACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACA... |
Task1_train_28116 | 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; Developmental and epileptic encephalopathy, 7 | TGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACG... | TGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACG... |
Task1_train_28117 | 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; Developmental and epileptic encephalopathy, 7 | GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCAC... | GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCAC... |
Task1_train_28118 | 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 | GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCAC... | GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCAC... |
Task1_train_28119 | This variant affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 7 | AACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCC... | AACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCC... |
Task1_train_28120 | Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCAC... | AGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCAC... |
Task1_train_28121 | 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 | GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACG... | GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACG... |
Task1_train_28122 | 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 | GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACG... | GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACG... |
Task1_train_28123 | 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 | ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCC... | ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCC... |
Task1_train_28124 | 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 | ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCC... | ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCC... |
Task1_train_28125 | 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 | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... |
Task1_train_28126 | A variant found in Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy, 7 | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... |
Task1_train_28127 | 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; West syndrome | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... | TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTA... |
Task1_train_28128 | 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; Seizures, benign familial neonatal, 1 | AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC... | AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC... |
Task1_train_28129 | 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 | AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC... | AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC... |
Task1_train_28130 | 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; Developmental and epileptic encephalopathy, 7 | GCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGG... | GCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGG... |
Task1_train_28131 | 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; Epileptic encephalopathy | GACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCT... | GACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCT... |
Task1_train_28132 | 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; Early infantile epileptic encephalopathy with suppression bursts | GCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGT... | GCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGT... |
Task1_train_28133 | 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; Seizures, benign familial neonatal, 1 | CCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGT... | CCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGT... |
Task1_train_28134 | This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGC... | GGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGC... |
Task1_train_28135 | 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; Developmental and epileptic encephalopathy, 7 | GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCT... | GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCT... |
Task1_train_28136 | 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; Seizures, benign familial neonatal, 1 | GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCT... | GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCT... |
Task1_train_28137 | A mutation found in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Seizures, benign familial neonatal, 1 | GGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCC... | GGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCC... |
Task1_train_28138 | 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; Developmental and epileptic encephalopathy, 7 | GGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCAC... | GGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCAC... |
Task1_train_28139 | 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 | CACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCAC... | CACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCAC... |
Task1_train_28140 | 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 | GCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAG... | GCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAG... |
Task1_train_28141 | 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; Early infantile epileptic encephalopathy with suppression bursts | CATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCT... | CATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCT... |
Task1_train_28142 | 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 | GGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCT... | GGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCT... |
Task1_train_28143 | 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; Early infantile epileptic encephalopathy with suppression bursts | GCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGC... | GCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGC... |
Task1_train_28144 | 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; Early infantile epileptic encephalopathy with suppression bursts | CCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAG... | CCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAG... |
Task1_train_28145 | 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; Inborn genetic diseases | CGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCA... | CGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCA... |
Task1_train_28146 | The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Seizures, benign familial neonatal, 1 | AACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGG... | AACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGG... |
Task1_train_28147 | 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; not provided | GCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGC... | GCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGC... |
Task1_train_28148 | Chromosome 20 houses a mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCT... | CACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCT... |
Task1_train_28149 | 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; Early infantile epileptic encephalopathy with suppression bursts | CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCA... | CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCA... |
Task1_train_28150 | 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; KCNQ2-related disorder | CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCA... | CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCA... |
Task1_train_28151 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACC... | ACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACC... |
Task1_train_28152 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCAT... | ACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCAT... |
Task1_train_28153 | 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 | AAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCAC... | AAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCAC... |
Task1_train_28154 | 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; Developmental and epileptic encephalopathy, 7 | ATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCAC... | ATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCAC... |
Task1_train_28155 | 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 | ACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCAC... | ACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCAC... |
Task1_train_28156 | 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 | CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCA... | CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCA... |
Task1_train_28157 | The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCA... | CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCA... |
Task1_train_28158 | 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; Seizures, benign familial neonatal, 1 | CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCA... | CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCA... |
Task1_train_28159 | 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; Seizures, benign familial neonatal, 1 | CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCA... | CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCA... |
Task1_train_28160 | 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 | CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCA... | CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCA... |
Task1_train_28161 | 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; Inborn genetic diseases | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... |
Task1_train_28162 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... |
Task1_train_28163 | 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 | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... |
Task1_train_28164 | This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Seizures, benign familial neonatal, 1 | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... | ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCAC... |
Task1_train_28165 | Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC... | CCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC... |
Task1_train_28166 | 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 | CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCA... | CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCA... |
Task1_train_28167 | Chromosome 20 houses a mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCA... | CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCA... |
Task1_train_28168 | 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 | CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCA... | CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCA... |
Task1_train_28169 | 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; Developmental and epileptic encephalopathy, 7 | CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCA... | CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCA... |
Task1_train_28170 | The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCA... | CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCA... |
Task1_train_28171 | This alteration occurs within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCA... | CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCA... |
Task1_train_28172 | 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 | ACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT... | ACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT... |
Task1_train_28173 | 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; Developmental and epileptic encephalopathy, 7 | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... |
Task1_train_28174 | 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 | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... |
Task1_train_28175 | 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; Early infantile epileptic encephalopathy with suppression bursts | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... | CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCA... |
Task1_train_28176 | 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; Seizures, benign familial neonatal, 1 | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... |
Task1_train_28177 | This alteration occurs within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 7 | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... |
Task1_train_28178 | 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; Inborn genetic diseases | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... |
Task1_train_28179 | 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 | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... | ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCAC... |
Task1_train_28180 | 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; Seizures, benign familial neonatal, 1 | CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCA... | CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCA... |
Task1_train_28181 | 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; Developmental and epileptic encephalopathy, 7 | CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCA... | CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCA... |
Task1_train_28182 | 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 | ACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCAT... | ACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCAT... |
Task1_train_28183 | 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 | CATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCA... | CATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCA... |
Task1_train_28184 | 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; Developmental and epileptic encephalopathy, 7 | CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCA... | CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCA... |
Task1_train_28185 | This variant affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCA... | CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCA... |
Task1_train_28186 | 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; Developmental and epileptic encephalopathy, 7 | ATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCAC... | ATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCAC... |
Task1_train_28187 | 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; Inborn genetic diseases | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28188 | 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; Developmental and epileptic encephalopathy, 7 | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28189 | 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 | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28190 | Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; See cases | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28191 | 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; Developmental and epileptic encephalopathy, 7 | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28192 | 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; Seizures, benign familial neonatal, 1 | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... | CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCA... |
Task1_train_28193 | This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... |
Task1_train_28194 | 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; KCNQ2-related disorder | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... |
Task1_train_28195 | 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 | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... | CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCAC... |
Task1_train_28196 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACC... | ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACC... |
Task1_train_28197 | 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; Inborn genetic diseases | ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACC... | ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACC... |
Task1_train_28198 | The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCAT... | CATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCAT... |
Task1_train_28199 | 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 | ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACC... | ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACC... |
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