ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_4200 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Seizures, benign familial infantile, 3 | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... |
Task1_train_4201 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Seizures, benign familial infantile, 3 | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... |
Task1_train_4202 | Here is a mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... |
Task1_train_4203 | Given this context: Chromosome 2, gene SCN2A (sodium voltage-gated channel alpha subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Episodic ataxia, type 9 | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... | TAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCAT... |
Task1_train_4204 | This mutation is located in gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Malignant migrating partial seizures of infancy | TTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCATGACATGCAGGG... | TTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAAACGTTGGTGCATGACATGCAGGG... |
Task1_train_4205 | Here’s a variant in SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AATCTCAACTTTTTTTATTCACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGA... | AATCTCAACTTTTTTTATTCACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGA... |
Task1_train_4206 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CTTTTTTTATTCACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATAT... | CTTTTTTTATTCACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATAT... |
Task1_train_4207 | Located on Chromosome 2, this mutation impacts SCN2A (sodium voltage-gated channel alpha subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Seizures, benign familial infantile, 3 | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... |
Task1_train_4208 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... |
Task1_train_4209 | Given this context: Chromosome 2, gene SCN2A (sodium voltage-gated channel alpha subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Seizures, benign familial infantile, 3 | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... | ACTAATTTTGTCTGACCTAATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTT... |
Task1_train_4210 | Given this variant in gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; West syndrome | AATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTTTTTATAAGTGTTCGCAGA... | AATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTTTTTATAAGTGTTCGCAGA... |
Task1_train_4211 | Consider a variant on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine its clinical classification and disease relevance. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTTTTTATAAGTGTTCGCAGA... | AATTAATGATATTATGCCCTTCAAACTGAAATTTACAAAAGTCAAAGCTGCTTTTTAGAGGCCTATTCCTTTTTAAATGTGTTCATGCTCATATTCACCAGTGGTTTGTATAGTTTACTTGTGTATCAAATGTTACTTTCCATTTCAGATCTGCTCAATATTATTAGAAATGATACAGAAATAAGTTTTACAGATCTGTAGAGGAAGATCACATTTCTCTCTCTTTTTTTTCTTTACTTTTAATTTTTTAAAAACATTTCCTACCAAGAATCTTGAAAAAGAGCACATATATGGGCTTCTTTTTTATAAGTGTTCGCAGA... |
Task1_train_4212 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGGCACTAAGAAACTGAGAAAATGTACAAGACTTTTGTTTTCAGAATTACTATGTCCGCACAACAGAAAAAGTATTTCAAAAAGTAAATGCGCTTGAATGTATTTGTTTTCAGTTTAGGAAACTGCTTCTTTTTGTAGAGTGCCTTAAAATAGTATGTTCAACAATATTAAAAAGATTTTCAAAAATAAGCCCTCGTGATTGATGATTGGTAATAATCATTTAAAAACTTATTGGATGTATATATATGTGTGTGTATACACGCACACACACACACACACACCCCTATAGACATACACAATGAAATAGTATTCAGCCTTTA... | TGGCACTAAGAAACTGAGAAAATGTACAAGACTTTTGTTTTCAGAATTACTATGTCCGCACAACAGAAAAAGTATTTCAAAAAGTAAATGCGCTTGAATGTATTTGTTTTCAGTTTAGGAAACTGCTTCTTTTTGTAGAGTGCCTTAAAATAGTATGTTCAACAATATTAAAAAGATTTTCAAAAATAAGCCCTCGTGATTGATGATTGGTAATAATCATTTAAAAACTTATTGGATGTATATATATGTGTGTGTATACACGCACACACACACACACACACCCCTATAGACATACACAATGAAATAGTATTCAGCCTTTA... |
Task1_train_4213 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CGTTAAATGGGAAAACAAGTTTTTGAACCCTGACCACAAATAATGGCTCATACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAAC... | CGTTAAATGGGAAAACAAGTTTTTGAACCCTGACCACAAATAATGGCTCATACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAAC... |
Task1_train_4214 | An alteration has been detected in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; West syndrome | CAAGTTTTTGAACCCTGACCACAAATAATGGCTCATACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCT... | CAAGTTTTTGAACCCTGACCACAAATAATGGCTCATACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCT... |
Task1_train_4215 | A variant affecting Chromosome 2, within the gene SCN2A (sodium voltage-gated channel alpha subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACC... | TACCCACTTTCCACAGTGGTTCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACC... |
Task1_train_4216 | This sequence change occurs on Chromosome 2, altering SCN2A (sodium voltage-gated channel alpha subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAAC... | TCTTACCTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAAC... |
Task1_train_4217 | With a mutation on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Seizures, benign familial infantile, 3 | CTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAAT... | CTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAAT... |
Task1_train_4218 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | CTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAAT... | CTTTTTGATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAAT... |
Task1_train_4219 | A variant on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Benign familial infantile epilepsy | ATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAATAAGAACA... | ATTAATTAATTCAATGCTCTCTCCACCTTCCTTATCAATAGCTTATATGCCATGAAACATTTTCAGTTTCTTCTTTAATAACTTAGCAGACCTTTTCCGCTGCAAAACTCCTGGAATTTCCAGCACATTACAAAAGATGAAAGCCAATTGAGCACTACATTTATGAAAAGTTGCTGGATCTTGAACTTTAATTAGTAAATTGCATCAGATAAATGCAAATTTAAACCAAAATAAAACATTATCTACACACCTACCAGATTGGCAATACCAAAAAGTCTGACAATACCAAGTTTTACCAAGGATAAACAGCAATAAGAACA... |
Task1_train_4220 | This sequence change occurs on Chromosome 2, altering SCN2A (sodium voltage-gated channel alpha subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; See cases | CATTATTTGAGAAAGTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAG... | CATTATTTGAGAAAGTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAG... |
Task1_train_4221 | Consider a variant on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... |
Task1_train_4222 | Here is a variant affecting SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Seizures, benign familial infantile, 3 | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... |
Task1_train_4223 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 11 | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... | GTTAAAGATATTTTTTAATACTGCAATTCTACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAA... |
Task1_train_4224 | Here is a genetic alteration in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; West syndrome | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... |
Task1_train_4225 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 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 | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... |
Task1_train_4226 | Given this context: Chromosome 2, gene SCN2A (sodium voltage-gated channel alpha subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; West syndrome | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... | ACTTTGAACAACGTATCCTAAAGAAACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAA... |
Task1_train_4227 | This alteration in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; West syndrome | ACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAA... | ACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAA... |
Task1_train_4228 | This variant impacts the gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAA... | ACTTATGCACATGTTTAGGATAATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAA... |
Task1_train_4229 | Given this context: Chromosome 2, gene SCN2A (sodium voltage-gated channel alpha subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Seizures, benign familial infantile, 3 | AATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAAGTCAGGATAATGATTACCTCC... | AATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAAGTCAGGATAATGATTACCTCC... |
Task1_train_4230 | This sequence change occurs on Chromosome 2, altering SCN2A (sodium voltage-gated channel alpha subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 11 | AATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAAGTCAGGATAATGATTACCTCC... | AATCTATGTACAAAAATGAATATAACTTTTTTTTGCACTTGCAAAAAACTGGGAGCAACTCAAAAACAGTAGAAATAGGCAAATAATTGAATACTATATAGTGATGAAAATGAATGAATACCGCCATATACAACCACATGGATGAGCCTTAAAAATACAACATTGAGTTAAAGAAACTAGACACATACTATAATTCTACTTATATAAAGTTCGAAATTGACAAAACTAAGCTTATTGTTCAAAACTGCATACTGAGGTGTTAACTTGAAAGAAAAAGCAGGGACATCATTACCATAAAAGTCAGGATAATGATTACCTCC... |
Task1_train_4231 | A mutation in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Benign familial infantile epilepsy | CTAAGTGCTTTAAACTCAAAACTGAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCA... | CTAAGTGCTTTAAACTCAAAACTGAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCA... |
Task1_train_4232 | A variant on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Seizures, benign familial infantile, 3 | GAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGC... | GAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGC... |
Task1_train_4233 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGC... | GAGTTAGAATTCATGAGACAGAGAAGGAGTGGGGGACATGTGTTTTAGACAGAATAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGC... |
Task1_train_4234 | A genomic change on Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAA... | TAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAA... |
Task1_train_4235 | Mutation context: Chromosome 2, Gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | TAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAA... | TAGTAGACAGATAAACTATGTAAAATGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAA... |
Task1_train_4236 | A variant affecting Chromosome 2, within the gene SCN2A (sodium voltage-gated channel alpha subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGG... | TGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGG... |
Task1_train_4237 | The following genetic variant occurs in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Seizures, benign familial infantile, 3 | TGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGG... | TGATACAGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGG... |
Task1_train_4238 | A sequence alteration has been identified in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; not provided | AGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAAC... | AGTAGAACCTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAAC... |
Task1_train_4239 | This alteration occurs within gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 11 | CTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGAT... | CTGCCTAAGCTTCTAAGAGTGGTAGGCAGGAAATATCAGAGGGTGGAAGTAAGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGAT... |
Task1_train_4240 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAG... | AGGGGAAGATGCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAG... |
Task1_train_4241 | Located on Chromosome 2, this mutation impacts SCN2A (sodium voltage-gated channel alpha subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Seizures, benign familial infantile, 3 | GCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGT... | GCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGT... |
Task1_train_4242 | This alteration occurs within gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 11 | GCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGT... | GCCAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGT... |
Task1_train_4243 | This genomic variant is located on Chromosome 2, within the SCN2A (sodium voltage-gated channel alpha subunit 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Episodic ataxia, type 9 | CAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGTAG... | CAGACTTGGAAAGTTAAACTACAGTAAATTAATAATTAATAAGGAAGGGTTTGAACTAAAAGTAGACACATTTATTGGGTTGAAAAAGGCCCTGAGAAGACAGATCCAGCTGGAGTAATAGAAATCTAGTTCAGCAGGCCAAATACGCATTCAGAGAAAAGAGCAAAACAAAATAGAACAAGTAGTGTTTGATGTCCAAAAATCACCATTGGAAGTAATAGAAGCCTCCCAATAGAAAGAGGGCAGAACACTAAGATGTAGAATCCAGGCCACTAAAAGTGTCAGGATCTGGGAAAGCAAGCCATTAGGTGTATATGTAG... |
Task1_train_4244 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Benign familial infantile epilepsy | TTGCAAGGAATTTTTTTTTTTGTAAAATGTTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCT... | TTGCAAGGAATTTTTTTTTTTGTAAAATGTTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCT... |
Task1_train_4245 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGA... | TTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGA... |
Task1_train_4246 | This variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Seizures, benign familial infantile, 3 | TTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGA... | TTGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGA... |
Task1_train_4247 | A mutation in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGAT... | TGTGAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGAT... |
Task1_train_4248 | This sequence change occurs on Chromosome 2, altering SCN2A (sodium voltage-gated channel alpha subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Seizures, benign familial infantile, 3 | GAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTC... | GAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTC... |
Task1_train_4249 | The variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTC... | GAGGATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTC... |
Task1_train_4250 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCT... | GATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCT... |
Task1_train_4251 | Consider a variant on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine its clinical classification and disease relevance. | Pathogenic; Seizures, benign familial infantile, 3 | GATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCT... | GATTAAAGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCT... |
Task1_train_4252 | The following genetic variant occurs in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 11 | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... |
Task1_train_4253 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... |
Task1_train_4254 | A change on Chromosome 2 affects gene SCN2A (sodium voltage-gated channel alpha subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... | AGATGTGTTTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTA... |
Task1_train_4255 | Assess the clinical impact of this variant on gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATT... | TTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATT... |
Task1_train_4256 | Consider this mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Seizures, benign familial infantile, 3 | TTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATT... | TTTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATT... |
Task1_train_4257 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | TTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTT... | TTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTT... |
Task1_train_4258 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTT... | TTTATAAAAGCTACATTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTT... |
Task1_train_4259 | This is a variant in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Episodic ataxia, type 9 | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... |
Task1_train_4260 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... |
Task1_train_4261 | A change on Chromosome 2 affects gene SCN2A (sodium voltage-gated channel alpha subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... | TTTTTTGTTGCTTTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAA... |
Task1_train_4262 | Here is a mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; SCN2A-related disorder | TTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTT... | TTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTT... |
Task1_train_4263 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Seizures, benign familial infantile, 3 | TTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTT... | TTCTTAAAATCAGAAGAATTGAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTT... |
Task1_train_4264 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCA... | GAATTCGATTTTTTTTAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCA... |
Task1_train_4265 | The variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; West syndrome | TAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGA... | TAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGA... |
Task1_train_4266 | A variant has been detected on Chromosome 2 in SCN2A (sodium voltage-gated channel alpha subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGA... | TAAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGA... |
Task1_train_4267 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Episodic ataxia, type 9 | AAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAG... | AAGGTTTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAG... |
Task1_train_4268 | A mutation found in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCT... | TTCTAATGGAACTTTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCT... |
Task1_train_4269 | This variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | TTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAA... | TTTACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAA... |
Task1_train_4270 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGG... | TACATATTATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGG... |
Task1_train_4271 | Consider this mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; West syndrome | TTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATA... | TTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATA... |
Task1_train_4272 | A variant has been detected on Chromosome 2 in SCN2A (sodium voltage-gated channel alpha subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTG... | GTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTG... |
Task1_train_4273 | A mutation in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTG... | CTTTTATTCAGTTAAGGAATATAGTGGTAAAAATATGTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTG... |
Task1_train_4274 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | GTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAAT... | GTGTTTTAAAACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAAT... |
Task1_train_4275 | Here’s a variant in SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGT... | ACTTTAGAGGTGTTTTTCACTAATCTTTCTCATTCATCCCAAACTCCCAAATAAAAATCTAATAGTCCATTGTTTTAGTTTTAGTTTGCCATTTCTCTAATTGCATGCTGTGCTTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGT... |
Task1_train_4276 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Seizures, benign familial infantile, 3 | TTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTT... | TTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTT... |
Task1_train_4277 | The variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTT... | TTGAAATGATGAGTGGAATACAAGGAATTTATATTTTCAGCTTTCATTTATTCTCATTTAATATTTTCATCTGTTCTCATCTCAGAAGACAATAACTGCAACTTTGGTAGAATAGTCTTGTACCTGGTCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTT... |
Task1_train_4278 | A variant found in Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; West syndrome | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... |
Task1_train_4279 | Chromosome 2 houses a mutation in gene SCN2A (sodium voltage-gated channel alpha subunit 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 | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... |
Task1_train_4280 | This is a variant in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... | TCATACTCCTGTGGTATTGACAGTTACTGCTTTGAATAAACAATCAATCCACACACATATATACATAAATCATTTGAAGTAGTCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAA... |
Task1_train_4281 | With a mutation on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; West syndrome | TCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTT... | TCACATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTT... |
Task1_train_4282 | Given this variant in gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... |
Task1_train_4283 | An alteration has been detected in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... |
Task1_train_4284 | Here is a genetic alteration in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... | ATAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGA... |
Task1_train_4285 | A variant was discovered on Chromosome 2, affecting SCN2A (sodium voltage-gated channel alpha subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGAG... | TAATTCATAAATATGACCTCTTAAATAATTGGAATAGTGTATATGTGCAGTTATATATATAATAACACATATATAAGTTTCATGTTATCTTTGGGTGCAGACAGTTTTCTGTGGTTTGCAATATCTCTTTTTGGAAGCAGATAGTTTGTTTGAAAATCCAAAACAGATTTGTTATCATCAATGATACATTAATGTTAGGATACATACATACATTAAGTCCTAGGAATGCAAAAGATTTATTGGAAAAAATATATATATACAGTGTTTATGTATAAGATATTAAATGAGGTACTGGAAGTAAATATAAGAAGATTTAAGAG... |
Task1_train_4286 | Gene GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 1 | TTATCAATTACAGATTTTACCCAAAAGAGGAAAAAAACTTAACCAAATGATTACAATAGTGTTGAGGATTTTTTATTGTGTTTTCCACATAGATAAAAAAATAAGGCTTTTTGATGAAAAGAATCCATTACAAAGTCAAAAATCCATTACAATTATAATTGAATCAGTAACAAAATTTAGCTTTAAATGAGTCAAGTATTCTGCATTTGAAATTTAATATCACAAACATTCAAGATTAGTGAATTTTGGTAAGAAAAAAATACTAGAAGAAAGGAAAAGGACACCTTTTCAACAGATAGTAATTTATAAAAATTTTTTTA... | TTATCAATTACAGATTTTACCCAAAAGAGGAAAAAAACTTAACCAAATGATTACAATAGTGTTGAGGATTTTTTATTGTGTTTTCCACATAGATAAAAAAATAAGGCTTTTTGATGAAAAGAATCCATTACAAAGTCAAAAATCCATTACAATTATAATTGAATCAGTAACAAAATTTAGCTTTAAATGAGTCAAGTATTCTGCATTTGAAATTTAATATCACAAACATTCAAGATTAGTGAATTTTGGTAAGAAAAAAATACTAGAAGAAAGGAAAAGGACACCTTTTCAACAGATAGTAATTTATAAAAATTTTTTTA... |
Task1_train_4287 | This variant affects the gene GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 1 | AATGAACTATCTTTCATATTAAAAACATCAAGTAGAATTCCTGATTTTTAAAAAGCAGTTTACTTAGTTTTTTTCTTAAAAAAGGAAACTTGGATTCATAAGTCATGTACTTTAAGAGTTAAAAACCTACTTTCAAATTTTTTGATGTTTTGTACTTGAGATGAATCGACGCAAAAGGACGTGTGAACTTGTTATAGATTTTATTGCAATTTAACTACTTAGCTTTAACTTACTTGTTTAACAATTTTTGCTGCATCTGTATTTCTCCTATAAAATATTTCCTTGTATTCATCCATCCAGACTTCTGCAAGGCGAACTTG... | AATGAACTATCTTTCATATTAAAAACATCAAGTAGAATTCCTGATTTTTAAAAAGCAGTTTACTTAGTTTTTTTCTTAAAAAAGGAAACTTGGATTCATAAGTCATGTACTTTAAGAGTTAAAAACCTACTTTCAAATTTTTTGATGTTTTGTACTTGAGATGAATCGACGCAAAAGGACGTGTGAACTTGTTATAGATTTTATTGCAATTTAACTACTTAGCTTTAACTTACTTGTTTAACAATTTTTGCTGCATCTGTATTTCTCCTATAAAATATTTCCTTGTATTCATCCATCCAGACTTCTGCAAGGCGAACTTG... |
Task1_train_4288 | A mutation found in GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 1 | TCTTAGCAATTTTTGAGTAGACAATATATTATTATTAATTACAGTCACCACGTTGTACAATAGATCTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTAT... | TCTTAGCAATTTTTGAGTAGACAATATATTATTATTAATTACAGTCACCACGTTGTACAATAGATCTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTAT... |
Task1_train_4289 | Located on Chromosome 2, this mutation impacts TTC21B (tetratricopeptide repeat domain 21B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Asphyxiating thoracic dystrophy 4 | TCAGAAGCCAAAAAAAGACATGAAAAGCAGATATATGATCATTAAATATTCTACTTGATCAAAGATACAATAAACAAATCTGATGAAGAAAAGACAGCCCGGGAGAAAATATCTACAACATGAACATTAGGTAAAGGATTAAAGACAAAGAATATAAATTAAAAATTCCTAGAAGAAAATAAGATATATAAACAAAATAATACCTAACCTTATCACTCATCAAAGAAATGTAAATTAAAATGTTTATTTTTCATGACTAACACGACATAATGTCAGGAAGTTTTTAGCCTTAAGAAAGAACAATGGGGCAAGATTCAATT... | TCAGAAGCCAAAAAAAGACATGAAAAGCAGATATATGATCATTAAATATTCTACTTGATCAAAGATACAATAAACAAATCTGATGAAGAAAAGACAGCCCGGGAGAAAATATCTACAACATGAACATTAGGTAAAGGATTAAAGACAAAGAATATAAATTAAAAATTCCTAGAAGAAAATAAGATATATAAACAAAATAATACCTAACCTTATCACTCATCAAAGAAATGTAAATTAAAATGTTTATTTTTCATGACTAACACGACATAATGTCAGGAAGTTTTTAGCCTTAAGAAAGAACAATGGGGCAAGATTCAATT... |
Task1_train_4290 | The gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe myoclonic epilepsy in infancy | AACCGAAGTCAGAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCT... | AACCGAAGTCAGAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCT... |
Task1_train_4291 | This alteration occurs within gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATG... | GAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATG... |
Task1_train_4292 | The variant affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACA... | AAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACA... |
Task1_train_4293 | The gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 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 | CCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGA... | CCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGA... |
Task1_train_4294 | A variant has been detected on Chromosome 2 in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGA... | CCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGA... |
Task1_train_4295 | This genomic variant is located on Chromosome 2, within the LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe myoclonic epilepsy in infancy | GTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTT... | GTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTT... |
Task1_train_4296 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | TCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATG... | TCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATG... |
Task1_train_4297 | Assess the clinical impact of this variant on gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATG... | TCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATG... |
Task1_train_4298 | This mutation occurs in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | ATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATA... | ATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATA... |
Task1_train_4299 | The gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCT... | ATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCT... |
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