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_4500 | 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 | AAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTA... | AAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTA... |
Task1_train_4501 | 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 | TCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTT... | TCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTT... |
Task1_train_4502 | 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 | TTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATA... | TTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATA... |
Task1_train_4503 | 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 | AAGAGTTTGGGGCCAAGAAACTAACTCAGTGGCACAAAATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATA... | AAGAGTTTGGGGCCAAGAAACTAACTCAGTGGCACAAAATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATA... |
Task1_train_4504 | This gene mutation involves LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGGGCCAAGAAACTAACTCAGTGGCACAAAATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTG... | GGGGCCAAGAAACTAACTCAGTGGCACAAAATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTG... |
Task1_train_4505 | 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 | AATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAA... | AATCAACAAGTGATGGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAA... |
Task1_train_4506 | 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 | GGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTAC... | GGTCCTGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTAC... |
Task1_train_4507 | 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 | TGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGA... | TGGGATACAAACTTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGA... |
Task1_train_4508 | Gene LOC102724058, SCN1A (uncharacterized LOC102724058| sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | TTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGAACAGAGACAAAA... | TTGAGTCTGTCTGACTCACAACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGAACAGAGACAAAA... |
Task1_train_4509 | 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; not provided | AACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGAACAGAGACAAAAATATGAACGATACCTACAT... | AACATAAAGGATTTAAGCAACATACCTTTTAAGTTCCCTGTTTCACTACTTTCCCTACAAACTGCTGATGTGTTGTTTTTTCTTTAGCTTTCTCAGATAACTAGAGAACTACCATAGATTCCATCCCCCAATGTTATTTTAAATCAGAATTAAATTAGCCCTTGTCTTCCAGAAATGACACTCTCATTGCATATATGCGTTTAGTGGTTATTATAGTCTGTCAACATAACATAGTGGTCTGAGACTCACTATTGTAGAATTTGAATATAAATAAGACAAGCTACCTTGAACAGAGACAAAAATATGAACGATACCTACAT... |
Task1_train_4510 | Given this context: Chromosome 2, gene SCN1A (sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAG... | ATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAG... |
Task1_train_4511 | An alteration has been detected in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTT... | TATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTT... |
Task1_train_4512 | A variant found in Chromosome 2 affects SCN1A (sodium voltage-gated channel alpha subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGT... | TTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGT... |
Task1_train_4513 | This genomic variant is located on Chromosome 2, within the SCN1A (sodium voltage-gated channel alpha subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACT... | TGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACT... |
Task1_train_4514 | A variant was discovered on Chromosome 2, affecting SCN1A (sodium voltage-gated channel alpha subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTT... | GTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTT... |
Task1_train_4515 | Given a variant located on Chromosome 2 and affecting SCN1A (sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTAT... | ATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTAT... |
Task1_train_4516 | Here is a variant affecting SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTATA... | TTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTATA... |
Task1_train_4517 | A change on Chromosome 2 affects gene SCN1A (sodium voltage-gated channel alpha subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTCCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCT... | TTTCCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCT... |
Task1_train_4518 | A mutation on Chromosome 2 affecting SCN1A (sodium voltage-gated channel alpha subunit 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTT... | TCCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTT... |
Task1_train_4519 | This alteration occurs within gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTG... | CCTGAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTG... |
Task1_train_4520 | A variant affecting Chromosome 2, within the gene SCN1A (sodium voltage-gated channel alpha subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe myoclonic epilepsy in infancy | GAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTT... | GAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTT... |
Task1_train_4521 | This variant affects the gene SCN1A (sodium voltage-gated channel alpha subunit 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTT... | GAATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTT... |
Task1_train_4522 | Gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | AATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTT... | AATACAGTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTT... |
Task1_train_4523 | Given this context: Chromosome 2, gene SCN1A (sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe myoclonic epilepsy in infancy | GTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCA... | GTACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCA... |
Task1_train_4524 | A genetic alteration is present in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAG... | TACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAG... |
Task1_train_4525 | The variant affects gene SCN1A (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 | TACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAG... | TACACTGTACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAG... |
Task1_train_4526 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGAT... | TACGGTAAATATTGGTTGTTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGAT... |
Task1_train_4527 | This variant lies on Chromosome 2 and affects the gene SCN1A (sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... |
Task1_train_4528 | This sequence variant lies in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy 6B | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... |
Task1_train_4529 | The variant affects gene SCN1A (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 | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... | TTTATCCTTGTAATCACGTGGTTGACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCC... |
Task1_train_4530 | A variant has been detected on Chromosome 2 in SCN1A (sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Severe myoclonic epilepsy in infancy | ACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGAT... | ACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGAT... |
Task1_train_4531 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | ACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGAT... | ACTGGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGAT... |
Task1_train_4532 | A variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe myoclonic epilepsy in infancy | GGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCT... | GGGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCT... |
Task1_train_4533 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTC... | GGAGCTGCAGCTTGCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTC... |
Task1_train_4534 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGG... | GCTGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGG... |
Task1_train_4535 | A variant has been detected on Chromosome 2 in SCN1A (sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTA... | TGCCCCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTA... |
Task1_train_4536 | A mutation found in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGT... | CCTGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGT... |
Task1_train_4537 | This is a variant in SCN1A (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 | TGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCA... | TGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCA... |
Task1_train_4538 | Here is a variant affecting SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Migraine, familial hemiplegic, 3 | TGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCA... | TGCCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCA... |
Task1_train_4539 | Chromosome 2 houses a mutation in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTA... | AGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTA... |
Task1_train_4540 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe myoclonic epilepsy in infancy | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... |
Task1_train_4541 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... |
Task1_train_4542 | Consider this mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... | ATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGA... |
Task1_train_4543 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | TATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTG... | TATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTG... |
Task1_train_4544 | A variant has been detected on Chromosome 2 in SCN1A (sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Severe myoclonic epilepsy in infancy | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... |
Task1_train_4545 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... |
Task1_train_4546 | This is a variant in SCN1A (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 | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... | ATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGT... |
Task1_train_4547 | This genomic variant is located on Chromosome 2, within the SCN1A (sodium voltage-gated channel alpha subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATG... | ACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATG... |
Task1_train_4548 | This sequence change occurs on Chromosome 2, altering SCN1A (sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATC... | GCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATC... |
Task1_train_4549 | This is a variant in SCN1A (sodium voltage-gated channel alpha subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCA... | AGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCA... |
Task1_train_4550 | A change on Chromosome 2 affects gene SCN1A (sodium voltage-gated channel alpha subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | GATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAA... | GATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAA... |
Task1_train_4551 | Gene SCN1A (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 | AAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAAT... | AAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAAT... |
Task1_train_4552 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGT... | AATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGT... |
Task1_train_4553 | Consider this mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Severe myoclonic epilepsy in infancy | ATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCA... | ATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCA... |
Task1_train_4554 | This variant affects gene SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe myoclonic epilepsy in infancy | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... |
Task1_train_4555 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; SCN1A-related disorder | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... |
Task1_train_4556 | This sequence variant lies in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... | GTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCA... |
Task1_train_4557 | This alteration in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAG... | TTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAG... |
Task1_train_4558 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAG... | TTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAG... |
Task1_train_4559 | Given a variant located on Chromosome 2 and affecting SCN1A (sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCT... | AAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCT... |
Task1_train_4560 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | AAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTT... | AAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTT... |
Task1_train_4561 | This variant lies on Chromosome 2 and affects the gene SCN1A (sodium voltage-gated channel alpha subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTG... | AACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTG... |
Task1_train_4562 | Gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe myoclonic epilepsy in infancy | TCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTC... | TCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTC... |
Task1_train_4563 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTG... | GTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTG... |
Task1_train_4564 | A genomic change on Chromosome 2 affects SCN1A (sodium voltage-gated channel alpha subunit 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCA... | TATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCA... |
Task1_train_4565 | A genetic alteration is present in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCAAGTGGTTTAATTTCATCTAAAATCTTTTGTTTCCTAATGAAGGACTGTTG... | CTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCAAGTGGTTTAATTTCATCTAAAATCTTTTGTTTCCTAATGAAGGACTGTTG... |
Task1_train_4566 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCAAGTGGTTTAATTTCATCTAAAATCTTTTGTTTCCTAATGAAGGACTGTTGAATAAATTCATATATTTTTCTTT... | ACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACAGTAAGACTGGGGTTGTTTATGAATGACATGTAATCACTTTCATCAATAATGTATTTTTCAACACTGCTGCCAGTTCCTATACCACTTGTAGTTCCATTTACATCTTTAAGATAGTCAAGATCTTTCCCAATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCAAGTGGTTTAATTTCATCTAAAATCTTTTGTTTCCTAATGAAGGACTGTTGAATAAATTCATATATTTTTCTTT... |
Task1_train_4567 | This sequence change occurs on Chromosome 2, altering SCN1A (sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe myoclonic epilepsy in infancy | TCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCA... | TCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCA... |
Task1_train_4568 | This sequence change occurs on Chromosome 2, altering SCN1A (sodium voltage-gated channel alpha subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe myoclonic epilepsy in infancy | TCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAAT... | TCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAAT... |
Task1_train_4569 | Given a variant located on Chromosome 2 and affecting SCN1A (sodium voltage-gated channel alpha subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... |
Task1_train_4570 | A genetic alteration is present in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... |
Task1_train_4571 | The gene SCN1A (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; Autosomal dominant epilepsy | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... | TTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGT... |
Task1_train_4572 | Here is a genetic alteration in SCN1A, SCN1A-AS1 (sodium voltage-gated channel alpha subunit 1| SCN1A and SCN9A antisense RNA 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Severe myoclonic epilepsy in infancy | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... |
Task1_train_4573 | Given a variant located on Chromosome 2 and affecting SCN1A, SCN1A-AS1 (sodium voltage-gated channel alpha subunit 1| SCN1A and SCN9A antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... |
Task1_train_4574 | With a mutation on Chromosome 2 in gene SCN1A, SCN1A-AS1 (sodium voltage-gated channel alpha subunit 1| SCN1A and SCN9A antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... |
Task1_train_4575 | This mutation occurs in SCN1A, SCN1A-AS1 (sodium voltage-gated channel alpha subunit 1| SCN1A and SCN9A antisense RNA 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Seizure | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... | TTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTT... |
Task1_train_4576 | The following genetic variant occurs in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAG... | TAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAG... |
Task1_train_4577 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe myoclonic epilepsy in infancy | TGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTC... | TGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTC... |
Task1_train_4578 | A variant found in Chromosome 2 affects SCN1A (sodium voltage-gated channel alpha subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTT... | CTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTT... |
Task1_train_4579 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Severe myoclonic epilepsy in infancy | AAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTTAAGTGGGTACATACCACTAGGTTTCCAATCACCATGACCATCA... | AAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTTAAGTGGGTACATACCACTAGGTTTCCAATCACCATGACCATCA... |
Task1_train_4580 | The variant affects gene SCN1A (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 | AAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTTAAGTGGGTACATACCACTAGGTTTCCAATCACCATGACCATCATGAAGACAGTAAGGCACATGGCTTGACCAGCAACCTCCATACAG... | AAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTTAAGTGGGTACATACCACTAGGTTTCCAATCACCATGACCATCATGAAGACAGTAAGGCACATGGCTTGACCAGCAACCTCCATACAG... |
Task1_train_4581 | This gene mutation involves SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTCTTTGAAATAAAGGTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCAT... | GTTCTTTGAAATAAAGGTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCAT... |
Task1_train_4582 | Assess the clinical impact of this variant on gene SCN1A (sodium voltage-gated channel alpha subunit 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAG... | GGTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAG... |
Task1_train_4583 | This variant impacts the gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 2 | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... |
Task1_train_4584 | This sequence variant lies in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Severe myoclonic epilepsy in infancy | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... |
Task1_train_4585 | A variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... | GTTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGA... |
Task1_train_4586 | Mutation context: Chromosome 2, Gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACAT... | TAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACAT... |
Task1_train_4587 | A variant has been detected on Chromosome 2 in SCN1A (sodium voltage-gated channel alpha subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Severe myoclonic epilepsy in infancy | TGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATT... | TGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATT... |
Task1_train_4588 | A mutation in SCN1A (sodium voltage-gated channel alpha subunit 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Severe myoclonic epilepsy in infancy | AGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATT... | AGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATT... |
Task1_train_4589 | This alteration in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | ATGCACTGACATTGTGGCTCAGCACTTGGCCTCAAGTTAAATGAGTGGTCTTTCATGTGACGTCTCAATGGGAACATGGTTTAGGGTGGTGTAGATATTGTGTGTGCAACCCTATGTGAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGAC... | ATGCACTGACATTGTGGCTCAGCACTTGGCCTCAAGTTAAATGAGTGGTCTTTCATGTGACGTCTCAATGGGAACATGGTTTAGGGTGGTGTAGATATTGTGTGTGCAACCCTATGTGAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGAC... |
Task1_train_4590 | Consider a variant on Chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Severe myoclonic epilepsy in infancy | ATATTGTGTGTGCAACCCTATGTGAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCAC... | ATATTGTGTGTGCAACCCTATGTGAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCAC... |
Task1_train_4591 | Given this context: Chromosome 2, gene SCN1A (sodium voltage-gated channel alpha subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Epileptic encephalopathy | ACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAGGCTTC... | ACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAGGCTTC... |
Task1_train_4592 | Here’s a variant in SCN1A (sodium voltage-gated channel alpha subunit 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CTCCTCATGCTGATATATTTCCAAGTGAGTAAACAGTCTAAGAAGAGGCAGCATCTGTTTAGAAATTCCTCATCTGAGTATACATCCACAAACACATAACATACCTTTGTACACAGACAATTATTTTATCTGTCTGTATTAATAATGTATTTGTGTCTCTTCATTTAATTTTGAGAAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACA... | CTCCTCATGCTGATATATTTCCAAGTGAGTAAACAGTCTAAGAAGAGGCAGCATCTGTTTAGAAATTCCTCATCTGAGTATACATCCACAAACACATAACATACCTTTGTACACAGACAATTATTTTATCTGTCTGTATTAATAATGTATTTGTGTCTCTTCATTTAATTTTGAGAAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACA... |
Task1_train_4593 | Consider this mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Severe myoclonic epilepsy in infancy | TGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATC... | TGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATC... |
Task1_train_4594 | Here is a variant affecting SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy 6B | GGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCC... | GGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCC... |
Task1_train_4595 | The gene SCN1A (sodium voltage-gated channel alpha subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCC... | CACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCC... |
Task1_train_4596 | Here is a mutation in SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Severe myoclonic epilepsy in infancy | AGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGC... | AGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGC... |
Task1_train_4597 | This mutation is located in gene SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTT... | TACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTT... |
Task1_train_4598 | Chromosome 2 houses a mutation in gene SCN1A (sodium voltage-gated channel alpha subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTT... | TAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTT... |
Task1_train_4599 | This gene mutation involves SCN1A (sodium voltage-gated channel alpha subunit 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe myoclonic epilepsy in infancy | ATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTC... | ATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTC... |
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