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_4400 | Consider this mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAA... | AAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAA... |
Task1_train_4401 | This gene mutation involves LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... |
Task1_train_4402 | Here is a variant affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... |
Task1_train_4403 | Here’s a variant in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Migraine, familial hemiplegic, 3 | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... |
Task1_train_4404 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Severe myoclonic epilepsy in infancy | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... |
Task1_train_4405 | 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; Generalized epilepsy with febrile seizures plus, type 2 | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... | GCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTAC... |
Task1_train_4406 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), 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 | TCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTACTT... | TCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCAGAGTCCTGAACCCAGTTATATTAAATATGACAACTATATATAATATATATATAATTGTACATAATATATTATAAATCTTAATTTTGAAATTCAGCAATAATTTCAATTATAAGGATTATAGTACTT... |
Task1_train_4407 | A genetic alteration is present in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... |
Task1_train_4408 | This variant affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe myoclonic epilepsy in infancy | GTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCC... | GTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCC... |
Task1_train_4409 | Consider this mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCA... | AAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCA... |
Task1_train_4410 | Mutation context: Chromosome 2, Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAAT... | AAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAAT... |
Task1_train_4411 | 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 | AATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAATCA... | AATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAATCA... |
Task1_train_4412 | Given a variant located on Chromosome 2 and affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAATCATGATGCTTATGTCAA... | TATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCATTGTGACCATGTTAAGACAGATGAGAATCATGATGCTTATGTCAA... |
Task1_train_4413 | 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; Migraine, familial hemiplegic, 3 | TTGATACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGAC... | TTGATACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGAC... |
Task1_train_4414 | 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; Migraine, familial hemiplegic, 3 | GATACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTT... | GATACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTT... |
Task1_train_4415 | Given this context: Chromosome 2, gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAAT... | GGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAAT... |
Task1_train_4416 | Here is a variant affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Severe myoclonic epilepsy in infancy | GGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAAT... | GGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAAT... |
Task1_train_4417 | A variant found in Chromosome 2 affects LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATC... | GTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATC... |
Task1_train_4418 | With a mutation on Chromosome 2 in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe myoclonic epilepsy in infancy | TTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAA... | TTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAA... |
Task1_train_4419 | This gene mutation involves LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | ATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGG... | ATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGG... |
Task1_train_4420 | This variant affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe myoclonic epilepsy in infancy | ATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGT... | ATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGT... |
Task1_train_4421 | This gene mutation involves LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGT... | ATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGT... |
Task1_train_4422 | This gene mutation involves LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | CTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGA... | CTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGA... |
Task1_train_4423 | A variant found in Chromosome 2 affects LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGA... | CTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGA... |
Task1_train_4424 | 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; Early infantile epileptic encephalopathy with suppression bursts | TTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGA... | TTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGA... |
Task1_train_4425 | A genomic change on Chromosome 2 affects LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATA... | GACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATA... |
Task1_train_4426 | A mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... |
Task1_train_4427 | 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; Severe myoclonic epilepsy in infancy | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... |
Task1_train_4428 | Located on Chromosome 2, this mutation impacts LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). 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 | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... | AAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTATTATTATTATCTTATGAAGACAAACACCCCCAAATCTCAAAAAGGTTAAGTATTTTACCCAAGACCTTATGCTTAGTGAGTGGCGAAATTTGGTTCACTGAGATAATAAATA... |
Task1_train_4429 | Given this variant in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | GGAGTGGGTAGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTC... | GGAGTGGGTAGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTC... |
Task1_train_4430 | 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; Early infantile epileptic encephalopathy with suppression bursts | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... |
Task1_train_4431 | This variant affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe myoclonic epilepsy in infancy | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... |
Task1_train_4432 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... |
Task1_train_4433 | An alteration has been detected in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Migraine, familial hemiplegic, 3 | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... |
Task1_train_4434 | A variant was discovered in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy 6B | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... | AGTTGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGT... |
Task1_train_4435 | Chromosome 2 houses a mutation in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Severe myoclonic epilepsy in infancy | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... |
Task1_train_4436 | 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; Acute encephalopathy | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... |
Task1_train_4437 | A variant on Chromosome 2 in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... | TGTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGG... |
Task1_train_4438 | Consider this mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Severe myoclonic epilepsy in infancy | GTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGA... | GTAGGGATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGA... |
Task1_train_4439 | A variant on Chromosome 2 in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe myoclonic epilepsy in infancy | GATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAA... | GATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAA... |
Task1_train_4440 | This variant impacts the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAA... | GATAAAGTAACAAATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAA... |
Task1_train_4441 | Chromosome 2 houses a mutation in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). 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 | ATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATA... | ATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATA... |
Task1_train_4442 | Here is a genetic alteration in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | ATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATA... | ATTGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATA... |
Task1_train_4443 | This variant impacts the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACT... | TGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACT... |
Task1_train_4444 | 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; Severe myoclonic epilepsy in infancy | TGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACT... | TGCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACT... |
Task1_train_4445 | A mutation found in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTT... | GCTTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTT... |
Task1_train_4446 | This sequence change occurs on Chromosome 2, altering LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTTAT... | TTTTGGGAAAGAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTTAT... |
Task1_train_4447 | This mutation is located in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTTATCTTCTTTTTC... | GAGGCATATTCGGTTGCTTTCTAGTTTTATTCTAATTATTATTTTTTAAAAGATAGAAAATGTTTCTTGATAATGAATAAGAGGAGGAAAAACTTTATGAACCTATGAACAAGAGTGTGGAACACAGTTATTCTTAGCTTTCTATAGCCGGAAATATATGGATAGTGAATGACAGAGGAAGAGGAAGGAAAAATCAGTTATAATATATACTCCCATTTTGTTTCTAAATTCAAGTACTCATTTGGCAGAGAAAACACTCCAAGGAATAATTTTCTATCTCAGTGGGAGAGAAAATATTAGAAATACTTATCTTCTTTTTC... |
Task1_train_4448 | Chromosome 2 houses a mutation in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | ACAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAA... | ACAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAA... |
Task1_train_4449 | A change on Chromosome 2 affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ACAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAA... | ACAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAA... |
Task1_train_4450 | A change on Chromosome 2 affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAA... | CAGCAGACACTTGGCACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAA... |
Task1_train_4451 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTA... | ACTCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTA... |
Task1_train_4452 | 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; Early infantile epileptic encephalopathy with suppression bursts | TCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGG... | TCACAGGATGAAGGATACTCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGG... |
Task1_train_4453 | This variant affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) 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 | TCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTC... | TCAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTC... |
Task1_train_4454 | A genomic change on Chromosome 2 affects LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCAT... | GGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCAT... |
Task1_train_4455 | A change on Chromosome 2 affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epilepsy | TGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGT... | TGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGT... |
Task1_train_4456 | This variant lies on Chromosome 2 and affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGT... | TGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGT... |
Task1_train_4457 | A mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTA... | GGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTA... |
Task1_train_4458 | 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; Early infantile epileptic encephalopathy with suppression bursts | AAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAA... | AAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAA... |
Task1_train_4459 | A genetic alteration is present in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe myoclonic epilepsy in infancy | AGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAG... | AGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAG... |
Task1_train_4460 | This variant lies on Chromosome 2 and affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | CTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATT... | CTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATT... |
Task1_train_4461 | A mutation found in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTT... | ATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTT... |
Task1_train_4462 | Consider this mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGC... | TGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGC... |
Task1_train_4463 | A genetic alteration is present in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGC... | TGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGC... |
Task1_train_4464 | 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; Early infantile epileptic encephalopathy with suppression bursts | TCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGA... | TCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGA... |
Task1_train_4465 | This variant lies on Chromosome 2 and affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | GAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGC... | GAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGC... |
Task1_train_4466 | Chromosome 2 houses a mutation in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). 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 | GGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGAC... | GGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGAC... |
Task1_train_4467 | A mutation on Chromosome 2 affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTA... | ATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTA... |
Task1_train_4468 | This mutation is located in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTAT... | TGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTAT... |
Task1_train_4469 | A sequence alteration has been identified in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Severe myoclonic epilepsy in infancy | TGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTAT... | TGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTAT... |
Task1_train_4470 | Given a variant located on Chromosome 2 and affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTG... | CTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTG... |
Task1_train_4471 | This variant lies on Chromosome 2 and affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTA... | GCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTA... |
Task1_train_4472 | A variant affecting Chromosome 2, within the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | GCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTA... | GCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTA... |
Task1_train_4473 | A mutation on Chromosome 2 affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAA... | TGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAA... |
Task1_train_4474 | A mutation on Chromosome 2 affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGG... | GGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGG... |
Task1_train_4475 | This sequence change occurs on Chromosome 2, altering LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe myoclonic epilepsy in infancy | TGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGAT... | TGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGAT... |
Task1_train_4476 | A variant on Chromosome 2 in gene SCN1A, LOC102724058 (sodium voltage-gated channel alpha subunit 1| uncharacterized LOC102724058) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAAT... | AAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAAT... |
Task1_train_4477 | 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 | CCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCT... | CCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCT... |
Task1_train_4478 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCT... | CCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCT... |
Task1_train_4479 | This alteration in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | AGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAA... | AGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAA... |
Task1_train_4480 | A genetic alteration is present in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATG... | AAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATG... |
Task1_train_4481 | 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; Inborn genetic diseases | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... |
Task1_train_4482 | A genomic change on Chromosome 2 affects LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... |
Task1_train_4483 | A sequence alteration has been identified in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... | TACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAAGGGACCATTTCAATGACTTACTAATCAATAGAGAGGTGATTCTATAAAAGCCAAATGTGAAGCAGTATTTTAGAGGGTTTTTTTTTTTTTTGGTGGCAGAATTTATTTAATAGCTTTGTGCAGGACCATCACTGTATTTTCAGAATTGCTTACATTTTAAAGGATTGCTTAAAATTTTTAATTTTTCTTTCCTCAAATTTATGGAG... |
Task1_train_4484 | This sequence variant lies in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTATTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCAT... | TTTATTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCAT... |
Task1_train_4485 | Here is a genetic alteration in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTATTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCAT... | TTTATTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCAT... |
Task1_train_4486 | This variant impacts the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTA... | TTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTA... |
Task1_train_4487 | A genetic alteration is present in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe myoclonic epilepsy in infancy | TTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTA... | TTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTA... |
Task1_train_4488 | A variant was discovered on Chromosome 2, affecting LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTG... | AAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTG... |
Task1_train_4489 | This sequence change occurs on Chromosome 2, altering LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATA... | AAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATA... |
Task1_train_4490 | 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; Early infantile epileptic encephalopathy with suppression bursts | AATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGA... | AATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGA... |
Task1_train_4491 | 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; Early infantile epileptic encephalopathy with suppression bursts | AAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCA... | AAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCA... |
Task1_train_4492 | 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; Severe myoclonic epilepsy in infancy | CGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCATTTAAACTATTAGTTATATCACTATCA... | CGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCATTTAAACTATTAGTTATATCACTATCA... |
Task1_train_4493 | This variant lies on Chromosome 2 and affects the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCATTTAAACTATTAGTTATATCACTATCA... | CGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGCCATATTCATAAATCTGACCATTTAAACTATTAGTTATATCACTATCA... |
Task1_train_4494 | 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; Early infantile epileptic encephalopathy with suppression bursts | GTCATATAATTTATCAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTT... | GTCATATAATTTATCAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTT... |
Task1_train_4495 | The following genetic variant occurs in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATCAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAA... | ATCAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAA... |
Task1_train_4496 | Given this context: Chromosome 2, gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACT... | CAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACT... |
Task1_train_4497 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Severe myoclonic epilepsy in infancy | CAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACT... | CAACTGAATAAATAGAAAAAAAAAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACT... |
Task1_train_4498 | Located on Chromosome 2, this mutation impacts LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe myoclonic epilepsy in infancy | GTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTT... | GTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTT... |
Task1_train_4499 | A variant affecting Chromosome 2, within the gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | AAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTA... | AAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTA... |
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