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_4300 | 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 | AATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCA... | AATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCA... |
Task1_train_4301 | This is a variant in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTA... | TGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTA... |
Task1_train_4302 | 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; Generalized epilepsy with febrile seizures plus, type 2 | TTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTA... | TTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTA... |
Task1_train_4303 | 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; Early infantile epileptic encephalopathy with suppression bursts | TTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTA... | TTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTA... |
Task1_train_4304 | 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 | TAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGC... | TAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGC... |
Task1_train_4305 | 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; Early infantile epileptic encephalopathy with suppression bursts | TAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGC... | TAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGC... |
Task1_train_4306 | 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 | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4307 | Here is a mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| 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; Generalized epilepsy with febrile seizures plus, type 2 | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4308 | 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 | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4309 | 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; Developmental and epileptic encephalopathy 6B | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4310 | 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 | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4311 | 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; Severe myoclonic epilepsy in infancy | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4312 | 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; Developmental and epileptic encephalopathy 6B | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4313 | 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; Severe myoclonic epilepsy in infancy | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... | AAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCA... |
Task1_train_4314 | 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; Severe myoclonic epilepsy in infancy | AACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAA... | AACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAA... |
Task1_train_4315 | 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 | GTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAAT... | GTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAAT... |
Task1_train_4316 | 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; Migraine, familial hemiplegic, 3 | GTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAAT... | GTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAAT... |
Task1_train_4317 | 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 | CTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATAC... | CTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATAC... |
Task1_train_4318 | 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 | CATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGT... | CATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGT... |
Task1_train_4319 | 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 | CATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGT... | CATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGT... |
Task1_train_4320 | 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 | TTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTC... | TTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTC... |
Task1_train_4321 | 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; not provided | TAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCA... | TAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCA... |
Task1_train_4322 | 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; Early infantile epileptic encephalopathy with suppression bursts | AAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCAC... | AAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCAC... |
Task1_train_4323 | 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 | AATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCA... | AATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCA... |
Task1_train_4324 | 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 | AAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGT... | AAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGT... |
Task1_train_4325 | The gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe myoclonic epilepsy in infancy | AAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACT... | AAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACT... |
Task1_train_4326 | 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; Early infantile epileptic encephalopathy with suppression bursts | GCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATA... | GCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATA... |
Task1_train_4327 | 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 | GCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATA... | GCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATA... |
Task1_train_4328 | The gene LOC102724058, SCN1A (uncharacterized LOC102724058| 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 | TGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGC... | TGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGC... |
Task1_train_4329 | 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 | AAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATT... | AAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATT... |
Task1_train_4330 | This alteration occurs within gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTT... | AACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTT... |
Task1_train_4331 | 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 | AATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGAT... | AATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGAT... |
Task1_train_4332 | 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 | TGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAG... | TGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAG... |
Task1_train_4333 | 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 | AATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAG... | AATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAG... |
Task1_train_4334 | 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 | ATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGA... | ATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGA... |
Task1_train_4335 | 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 | AGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTA... | AGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTA... |
Task1_train_4336 | 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; Generalized epilepsy with febrile seizures plus, type 2 | ATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAAT... | ATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAAT... |
Task1_train_4337 | This alteration occurs within gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGT... | AGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGT... |
Task1_train_4338 | The variant affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTC... | GCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTC... |
Task1_train_4339 | 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 | GTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAAT... | GTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAAT... |
Task1_train_4340 | 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; not provided | AGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGT... | AGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGT... |
Task1_train_4341 | 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 | CCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCT... | CCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCT... |
Task1_train_4342 | 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; not provided | ATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCG... | ATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCG... |
Task1_train_4343 | 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 | CAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTG... | CAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTG... |
Task1_train_4344 | 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 | AGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGG... | AGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGG... |
Task1_train_4345 | 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 | AATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGG... | AATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGG... |
Task1_train_4346 | Here is a mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| 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; Generalized epilepsy with febrile seizures plus, type 2 | TAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGG... | TAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGG... |
Task1_train_4347 | 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 | TATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAA... | TATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAA... |
Task1_train_4348 | 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; Severe myoclonic epilepsy in infancy | TCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATA... | TCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATA... |
Task1_train_4349 | 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 | TGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAAT... | TGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAAT... |
Task1_train_4350 | 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 | CATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGC... | CATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGC... |
Task1_train_4351 | Here is a mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| 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; not provided | ATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCA... | ATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCA... |
Task1_train_4352 | 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 | TTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACC... | TTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACC... |
Task1_train_4353 | 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 | TTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACC... | TTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACC... |
Task1_train_4354 | 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 | TTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGC... | TTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGC... |
Task1_train_4355 | 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 | ATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTA... | ATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTA... |
Task1_train_4356 | 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 | CAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACC... | CAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACC... |
Task1_train_4357 | Assess the clinical impact of this variant on gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Severe myoclonic epilepsy in infancy | TTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACT... | TTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACT... |
Task1_train_4358 | 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 | TTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAG... | TTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAG... |
Task1_train_4359 | 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; Generalized epilepsy with febrile seizures plus, type 2 | TATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGG... | TATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGG... |
Task1_train_4360 | 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; Severe myoclonic epilepsy in infancy | TTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGG... | TTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGG... |
Task1_train_4361 | 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; Severe myoclonic epilepsy in infancy | ACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAA... | ACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAA... |
Task1_train_4362 | 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; Severe myoclonic epilepsy in infancy | CACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAA... | CACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAA... |
Task1_train_4363 | 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; Inborn genetic diseases | CACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAA... | CACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAA... |
Task1_train_4364 | 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 | AGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAA... | AGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAA... |
Task1_train_4365 | 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; Early infantile epileptic encephalopathy with suppression bursts | GTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAA... | GTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAA... |
Task1_train_4366 | 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 | AAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGC... | AAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGC... |
Task1_train_4367 | This alteration occurs within gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACC... | TGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACC... |
Task1_train_4368 | This is a variant in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACC... | TGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACC... |
Task1_train_4369 | 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 | GACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCT... | GACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCT... |
Task1_train_4370 | 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; Early infantile epileptic encephalopathy with suppression bursts | ACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTC... | ACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTC... |
Task1_train_4371 | 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 | TAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCAC... | TAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCAC... |
Task1_train_4372 | Assess the clinical impact of this variant on gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... |
Task1_train_4373 | 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 | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... |
Task1_train_4374 | Here is a mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| 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; Autosomal dominant epilepsy | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... |
Task1_train_4375 | 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 | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... | CATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCC... |
Task1_train_4376 | This is a variant in LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Severe myoclonic epilepsy in infancy | ATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCA... | ATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCA... |
Task1_train_4377 | The variant affects gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCA... | ATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCA... |
Task1_train_4378 | 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 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4379 | 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 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4380 | 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; Migraine, familial hemiplegic, 3 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4381 | 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; Severe myoclonic epilepsy in infancy | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4382 | 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; Inborn genetic diseases | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4383 | 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; Migraine, familial hemiplegic, 3 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4384 | 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 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4385 | 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 | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... | ATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATG... |
Task1_train_4386 | Consider a variant on Chromosome 2 in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTG... | CAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTG... |
Task1_train_4387 | 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 | TCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATT... | TCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATT... |
Task1_train_4388 | 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 | CAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTT... | CAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTT... |
Task1_train_4389 | Here is a mutation in LOC102724058, SCN1A (uncharacterized LOC102724058| 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 | CTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGA... | CTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGA... |
Task1_train_4390 | Consider a variant on Chromosome 2 in gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Severe myoclonic epilepsy in infancy | GAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGAATTTGT... | GAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGAATTTGT... |
Task1_train_4391 | 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 | CAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGAATTTGTTTTTCTTGTGACTTTTTCTCATGCATG... | CAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACTTGGTCTAGGGGCTGGATTTCGCAAAACAAGATCAACAAAGCACCTCCACTTATCACCCAATTACCCCTCCCAGAAATATGGTGAAATTTAAGAATTTGTTTTTCTTGTGACTTTTTCTCATGCATG... |
Task1_train_4392 | 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; Severe myoclonic epilepsy in infancy | TGGAATAGGCAGATCATGCTGTTGCCAAAGGTCTCAAAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATG... | TGGAATAGGCAGATCATGCTGTTGCCAAAGGTCTCAAAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATG... |
Task1_train_4393 | 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; Generalized epilepsy with febrile seizures plus, type 2 | TGGAATAGGCAGATCATGCTGTTGCCAAAGGTCTCAAAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATG... | TGGAATAGGCAGATCATGCTGTTGCCAAAGGTCTCAAAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATG... |
Task1_train_4394 | 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 | AAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAAT... | AAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAAT... |
Task1_train_4395 | 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 | AAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAAT... | AAGTTGAACATGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAAT... |
Task1_train_4396 | 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; Migraine, familial hemiplegic, 3 | AACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCT... | AACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCT... |
Task1_train_4397 | 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 | CCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGG... | CCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGG... |
Task1_train_4398 | 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 | ATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCA... | ATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCA... |
Task1_train_4399 | 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 | ATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCA... | ATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGTTTCTTCTAAAGCTCCAAGGTAAGGTTCA... |
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