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_4600 | This variant affects gene SCN1A (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 | ATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTG... | ATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTG... |
Task1_train_4601 | An alteration has been detected in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTG... | ATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTG... |
Task1_train_4602 | A variant found in Chromosome 2 affects SCN1A (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 | AAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAA... | AAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAA... |
Task1_train_4603 | This mutation occurs in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, mild | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4604 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Seizure | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4605 | A variant was discovered on Chromosome 2, affecting SCN1A (sodium voltage-gated channel alpha subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Severe myoclonic epilepsy in infancy | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4606 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Migraine, familial hemiplegic, 3 | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4607 | The gene SCN1A (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; Severe myoclonic epilepsy in infancy | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4608 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4609 | Located on Chromosome 2, this mutation impacts SCN1A (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; Developmental and epileptic encephalopathy 6B | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4610 | A variant was discovered on Chromosome 2, affecting SCN1A (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 | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4611 | A mutation in SCN1A (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 | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... | AATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAAC... |
Task1_train_4612 | A variant affecting Chromosome 2, within the gene SCN1A (sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TATCCAACATGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAG... | TATCCAACATGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAG... |
Task1_train_4613 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGT... | TGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGT... |
Task1_train_4614 | This variant impacts the gene SCN1A (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 | TGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGT... | TGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGT... |
Task1_train_4615 | A genomic change on Chromosome 2 affects SCN1A (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 | TATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTC... | TATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTC... |
Task1_train_4616 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCT... | ATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCT... |
Task1_train_4617 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | AAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCC... | AAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCC... |
Task1_train_4618 | A change on Chromosome 2 affects gene SCN1A (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 | TTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCAC... | TTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCAC... |
Task1_train_4619 | Gene SCN1A (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; not provided | TTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGC... | TTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGC... |
Task1_train_4620 | Here is a variant affecting SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 6 | TTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTT... | TTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTT... |
Task1_train_4621 | Here is a genetic alteration in SCN1A (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; Severe myoclonic epilepsy in infancy | TTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTT... | TTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTT... |
Task1_train_4622 | A variant was discovered in gene SCN1A (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; Generalized epilepsy with febrile seizures plus, type 2 | AAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATA... | AAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATA... |
Task1_train_4623 | Given this variant in gene SCN1A (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; Severe myoclonic epilepsy in infancy | ATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTA... | ATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTA... |
Task1_train_4624 | Gene SCN1A (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 | GGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAG... | GGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAG... |
Task1_train_4625 | Gene SCN1A (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 | GGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAG... | GGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAG... |
Task1_train_4626 | Chromosome 2 houses a mutation in gene SCN1A (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 | GATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTT... | GATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTT... |
Task1_train_4627 | Gene SCN1A (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; not provided | GATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTT... | GATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTT... |
Task1_train_4628 | This alteration in SCN1A (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; Severe myoclonic epilepsy in infancy | ATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTTT... | ATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTTT... |
Task1_train_4629 | Located on Chromosome 2, this mutation impacts SCN1A (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 | ATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTTT... | ATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTTT... |
Task1_train_4630 | Assess the clinical impact of this variant on gene SCN1A (sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | TTCTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTA... | TTCTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTA... |
Task1_train_4631 | This variant lies on Chromosome 2 and affects the gene SCN1A (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 | CTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATG... | CTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATG... |
Task1_train_4632 | This variant impacts the gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | AGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCA... | AGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCA... |
Task1_train_4633 | A variant was discovered on Chromosome 2, affecting SCN1A (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 | GGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCAC... | GGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCAC... |
Task1_train_4634 | Consider this mutation in SCN1A (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 | TCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTC... | TCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTC... |
Task1_train_4635 | Consider this mutation in SCN1A (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 | TCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTC... | TCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTC... |
Task1_train_4636 | Gene SCN1A (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 | GGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAATGAA... | GGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAATGAA... |
Task1_train_4637 | A sequence alteration has been identified in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAATGAAACAGTCAAT... | TTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAATGAAACAGTCAAT... |
Task1_train_4638 | This sequence change occurs on Chromosome 2, altering SCN1A (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 | ACATAATTAAGAACTCCCCTCACTGTGCTACCAGTAACCTGTATATACTTGAATTATTCTTAGGATGACACTACTATATTGTAATTATTTATTTACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACA... | ACATAATTAAGAACTCCCCTCACTGTGCTACCAGTAACCTGTATATACTTGAATTATTCTTAGGATGACACTACTATATTGTAATTATTTATTTACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACA... |
Task1_train_4639 | A genetic alteration is present in SCN1A (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 | TACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTT... | TACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTT... |
Task1_train_4640 | Mutation context: Chromosome 2, Gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTT... | TACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTT... |
Task1_train_4641 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAAT... | AATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAAT... |
Task1_train_4642 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe myoclonic epilepsy in infancy | AATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAAT... | AATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAAT... |
Task1_train_4643 | The gene SCN1A (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 | CCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAA... | CCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAA... |
Task1_train_4644 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Migraine, familial hemiplegic, 3 | CTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAA... | CTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAA... |
Task1_train_4645 | Given this variant in gene SCN1A (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; Severe myoclonic epilepsy in infancy | AGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACA... | AGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACA... |
Task1_train_4646 | This alteration occurs within gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGA... | GTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGA... |
Task1_train_4647 | A change on Chromosome 2 affects gene SCN1A (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 | ATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCAT... | ATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCAT... |
Task1_train_4648 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy 6B | ATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCAT... | ATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCAT... |
Task1_train_4649 | A mutation in SCN1A (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; Severe myoclonic epilepsy in infancy | AATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCA... | AATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCA... |
Task1_train_4650 | This sequence variant lies in SCN1A (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 | AAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCT... | AAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCT... |
Task1_train_4651 | A mutation on Chromosome 2 affecting SCN1A (sodium voltage-gated channel alpha subunit 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTA... | AATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTA... |
Task1_train_4652 | A variant was discovered in gene SCN1A (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; Severe myoclonic epilepsy in infancy | AAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGAT... | AAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGAT... |
Task1_train_4653 | A mutation in SCN1A (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; Severe myoclonic epilepsy in infancy | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... |
Task1_train_4654 | The gene SCN1A (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 | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... |
Task1_train_4655 | Given this variant in gene SCN1A (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 | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... | CATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCT... |
Task1_train_4656 | A mutation found in SCN1A (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; Severe myoclonic epilepsy in infancy | ATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTG... | ATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTG... |
Task1_train_4657 | A mutation found in SCN1A (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 | ATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTG... | ATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTG... |
Task1_train_4658 | A mutation on Chromosome 2 affecting SCN1A (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 | AATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTGAGGAAAATATAA... | AATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTGAGGAAAATATAA... |
Task1_train_4659 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe myoclonic epilepsy in infancy | TAATTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTT... | TAATTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTT... |
Task1_train_4660 | This mutation occurs in SCN1A (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 | TAATTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTT... | TAATTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTT... |
Task1_train_4661 | Mutation context: Chromosome 2, Gene SCN1A (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 | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4662 | A sequence alteration has been identified in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Severe myoclonic epilepsy in infancy | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4663 | This variant affects the gene SCN1A (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; Developmental and epileptic encephalopathy 6B | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4664 | A variant affecting Chromosome 2, within the gene SCN1A (sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 6 | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4665 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Migraine, familial hemiplegic, 3 | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4666 | This mutation occurs in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4667 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4668 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Severe myoclonic epilepsy in infancy | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4669 | Consider this mutation in SCN1A (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 | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4670 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... | TTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCT... |
Task1_train_4671 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe myoclonic epilepsy in infancy | TTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAG... | TTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAG... |
Task1_train_4672 | This gene mutation involves SCN1A (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 | TGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAG... | TGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAG... |
Task1_train_4673 | Assess the clinical impact of this variant on gene SCN1A (sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Migraine, familial hemiplegic, 3 | AATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAGCCT... | AATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAGCCT... |
Task1_train_4674 | This gene mutation involves SCN1A (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 | TTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAGCCTTCCAAATGA... | TTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAGCCTTCCAAATGA... |
Task1_train_4675 | This genomic variant is located on Chromosome 2, within the SCN1A (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 | TTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGA... | TTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGA... |
Task1_train_4676 | A variant has been detected on Chromosome 2 in SCN1A (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 | GAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAAC... | GAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAAC... |
Task1_train_4677 | A variant has been detected on Chromosome 2 in SCN1A (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 | AAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGA... | AAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGA... |
Task1_train_4678 | Here is a genetic alteration in SCN1A (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; Severe myoclonic epilepsy in infancy | AACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTAC... | AACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTAC... |
Task1_train_4679 | Given this variant in gene SCN1A (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; Early infantile epileptic encephalopathy with suppression bursts | AACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTAC... | AACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTAC... |
Task1_train_4680 | This variant affects the gene SCN1A (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 | AAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGA... | AAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGA... |
Task1_train_4681 | The gene SCN1A (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 | AAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGA... | AAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGA... |
Task1_train_4682 | Given this context: Chromosome 2, gene SCN1A (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 | AGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGACACAAAG... | AGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGACACAAAG... |
Task1_train_4683 | A variant on Chromosome 2 in gene SCN1A (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 | TGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGACACAAAGAAAAAGCTGTAGGTACAAAGAGCCTATCCTTTACT... | TGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCACACACAAACACAAAAACAGGACACAAAGAAAAAGCTGTAGGTACAAAGAGCCTATCCTTTACT... |
Task1_train_4684 | This alteration in SCN1A (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; Developmental and epileptic encephalopathy 6B | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... |
Task1_train_4685 | Given this context: Chromosome 2, gene SCN1A (sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe myoclonic epilepsy in infancy | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... |
Task1_train_4686 | A genetic alteration is present in SCN1A (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; Generalized epilepsy with febrile seizures plus, type 2 | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... |
Task1_train_4687 | This variant impacts the gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Migraine, familial hemiplegic, 3 | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... |
Task1_train_4688 | A genetic alteration is present in SCN1A (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 | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... | GTGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATA... |
Task1_train_4689 | This alteration occurs within gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe myoclonic epilepsy in infancy | TGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAA... | TGAAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAA... |
Task1_train_4690 | This sequence change occurs on Chromosome 2, altering SCN1A (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 | TGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTAT... | TGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTAT... |
Task1_train_4691 | A variant was discovered on Chromosome 2, affecting SCN1A (sodium voltage-gated channel alpha subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Severe myoclonic epilepsy in infancy | AAAAGAAAATCAAAATCCAAGTGTTATATTACAAAAAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTT... | AAAAGAAAATCAAAATCCAAGTGTTATATTACAAAAAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTT... |
Task1_train_4692 | This sequence variant lies in SCN1A (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 | AAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGG... | AAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGG... |
Task1_train_4693 | Assess the clinical impact of this variant on gene SCN1A (sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Severe myoclonic epilepsy in infancy | AAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGG... | AAGCTAACATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGG... |
Task1_train_4694 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAA... | CATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAA... |
Task1_train_4695 | This genomic variant is located on Chromosome 2, within the SCN1A (sodium voltage-gated channel alpha subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe myoclonic epilepsy in infancy | ATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAA... | ATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAA... |
Task1_train_4696 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAA... | ATTGAAAAGCCCAAACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAA... |
Task1_train_4697 | Given a variant located on Chromosome 2 and affecting SCN1A (sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe myoclonic epilepsy in infancy | ACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTG... | ACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTG... |
Task1_train_4698 | A mutation found in SCN1A (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; Severe myoclonic epilepsy in infancy | CCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACT... | CCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACT... |
Task1_train_4699 | Gene SCN1A (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 | CCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACT... | CCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACT... |
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