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_4100 | This alteration occurs within gene IFIH1 (interferon induced with helicase C domain 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Aicardi-Goutieres syndrome 7 | CAGCAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGA... | CAGCAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGA... |
Task1_train_4101 | A mutation in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Aicardi-Goutieres syndrome 7 | CAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAAC... | CAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAAC... |
Task1_train_4102 | Given a variant located on Chromosome 2 and affecting IFIH1 (interferon induced with helicase C domain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACAT... | TAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACAT... |
Task1_train_4103 | This sequence variant lies in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Singleton-Merten syndrome 1 | TTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCA... | TTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCA... |
Task1_train_4104 | This is a variant in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Aicardi-Goutieres syndrome 7 | TTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCA... | TTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCA... |
Task1_train_4105 | A mutation in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Aicardi-Goutieres syndrome 7 | ATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCATTTTTAAATGAAAATCAA... | ATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCATTTTTAAATGAAAATCAA... |
Task1_train_4106 | A mutation in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Aicardi-Goutieres syndrome 7 | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... |
Task1_train_4107 | A genetic alteration is present in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Singleton-Merten syndrome 1 | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... |
Task1_train_4108 | A variant has been detected on Chromosome 2 in IFIH1 (interferon induced with helicase C domain 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aicardi-Goutieres syndrome 7 | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... |
Task1_train_4109 | Here is a variant affecting IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Singleton-Merten syndrome 1 | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... | TGGTCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCA... |
Task1_train_4110 | An alteration has been detected in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Aicardi-Goutieres syndrome 7 | TCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCAGAT... | TCCAGTTGGCATTTGGTGCACATCCACACTGTCTATTGCCCCCATACATTAAACAAAAATAAAGCTGCCAGACCAAAAGTATGTTCTTCCATCCCCTTCCCTTTCTTCTCAGAGGCAGTGTGAGTCCTTATTTGACTCCTACTCCTAACTGTCGGAGAACCCTGTAGAAAGGCCTCTCTTGAGTCTTCTCTGAAAATTTCTCCCTCCGGCCCTCACATCTCCCGATAAAAACTTACATGTTCTTGGATTTTAGCAGAAGATGCCTGTGTCTTAATTTGAAGGAGTAACTTTAATAACAAAAATTCCAGACAGTGTCAGAT... |
Task1_train_4111 | The following genetic variant occurs in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurodevelopmental delay | GGAGTGCATGTAGAGGGTATATAAAGAGTTATAGTGAACCATTTCAAGAATTTTTTTCCAGCAAACACTGAAACAGAATTAATTTGCTCCATTGGCTTGAATAGTGATAACTATAATAGAAAGGAAGTATCCATTTGTCCAGAAAGACTCAGGGTCAATGTGATTTTAGCCCTCAGAAGAATATTTTACTCTAACAAGGCATCATTGCTTCATGCATGCTTGTAATGTCTACTAGTGCCTTTTTTTCTTACCCAAGTGTTTTTTTACTATGCCCACAGTAAGCAACATGTAAACAAAGTAAAACAAAACACCTTAAAATG... | GGAGTGCATGTAGAGGGTATATAAAGAGTTATAGTGAACCATTTCAAGAATTTTTTTCCAGCAAACACTGAAACAGAATTAATTTGCTCCATTGGCTTGAATAGTGATAACTATAATAGAAAGGAAGTATCCATTTGTCCAGAAAGACTCAGGGTCAATGTGATTTTAGCCCTCAGAAGAATATTTTACTCTAACAAGGCATCATTGCTTCATGCATGCTTGTAATGTCTACTAGTGCCTTTTTTTCTTACCCAAGTGTTTTTTTACTATGCCCACAGTAAGCAACATGTAAACAAAGTAAAACAAAACACCTTAAAATG... |
Task1_train_4112 | This is a variant in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Aicardi-Goutieres syndrome 7 | ACAGATTTGATTGCTATTAGCCTTAGATTTTATTTCAAGAACAGGTGTTTTATCCTGTAAATGTATTCATGGGTGGTGAGAGGATTGGTAGAAAAAGACTAAAAACAATTTGAGAAGAGTAATAACAGCATAAGAAAAGAAGTCCAGGCTGAGCGCAGTGGCTCGTGCCTATAATCTCAATACTTTGGAAGGCAGAGGCAGAAGGATGGCTTGAGCCCAGGAGTTTAAGACAAGCCAGGACAACATAGTGGGACACCTTTTCTACAAAAAAGATAAAAAAATTAGTTGGGTGTGGTGGTGCACACCTAGAGTCCCAGCTG... | ACAGATTTGATTGCTATTAGCCTTAGATTTTATTTCAAGAACAGGTGTTTTATCCTGTAAATGTATTCATGGGTGGTGAGAGGATTGGTAGAAAAAGACTAAAAACAATTTGAGAAGAGTAATAACAGCATAAGAAAAGAAGTCCAGGCTGAGCGCAGTGGCTCGTGCCTATAATCTCAATACTTTGGAAGGCAGAGGCAGAAGGATGGCTTGAGCCCAGGAGTTTAAGACAAGCCAGGACAACATAGTGGGACACCTTTTCTACAAAAAAGATAAAAAAATTAGTTGGGTGTGGTGGTGCACACCTAGAGTCCCAGCTG... |
Task1_train_4113 | Gene IFIH1 (interferon induced with helicase C domain 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spastic diplegia | TTCATATCATTTGATCCCAACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTC... | TTCATATCATTTGATCCCAACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTC... |
Task1_train_4114 | This is a variant in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Singleton-Merten syndrome 1 | AACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAA... | AACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAA... |
Task1_train_4115 | The variant affects gene IFIH1 (interferon induced with helicase C domain 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Aicardi-Goutieres syndrome 7 | AACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAA... | AACATTCTTATTTTCAATGGTATTATCAAGTACATATGGCCAGAATTTGTAATGCTTTCTAAATTTTACAAAATAAAGTATTGACATAATTTACTGGCCATAATGTCCAAATTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAA... |
Task1_train_4116 | Gene IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Aicardi-Goutieres syndrome 7 | TTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAA... | TTGACTCTCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAA... |
Task1_train_4117 | A mutation in IFIH1 (interferon induced with helicase C domain 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Aicardi-Goutieres syndrome 7 | TCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAA... | TCAGTTTATTCTTATAATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAA... |
Task1_train_4118 | A variant was discovered in gene IFIH1 (interferon induced with helicase C domain 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Aicardi-Goutieres syndrome 7 | ATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAATAAGCTATTCCTCATG... | ATTCCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAATAAGCTATTCCTCATG... |
Task1_train_4119 | Given a variant located on Chromosome 2 and affecting IFIH1 (interferon induced with helicase C domain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAATAAGCTATTCCTCATGTAA... | CCTGAAAAATTCATCAGAAAAGCATCATTAAAGTAAATATTTCACTTCTTTACCATTGCACTGTTTTCCTAAGAAAGTAAATATGCAAGTATGCAAATTAGATAGGATTCCCATTATCATTGCCAAATGTAATTTGATAGCAACAAAATGGCTCTGTGGAATGTCAGAAAATCAATCCTGGAATTCACGAAGAAAATTAAAAAGGCTAAAACGAACTGTCATAACCCCTCCAGCTTAGTTACACATCCCTCTGCCCATGGCCCCTCACTGTCCCTTTTAACTCATATGTACAAACAATGAATAAGCTATTCCTCATGTAA... |
Task1_train_4120 | A variant on Chromosome 2 in gene IFIH1 (interferon induced with helicase C domain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Aicardi-Goutieres syndrome 7 | GAGTATAACAATTTACCATCATTGACAGAGAATGATTTTGAGATAACCATGTTACATGAGGCATATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTTGATTATTAGATTGGAATTAGTCCTTAATCCCAGTAATAAATTATATTTTGGAGCCTATAATTGCATCTCTGAATGTTGTGTCTACTCTACATAATTTGTATTGAATTCAACTTAAAGTAAGGGACTTAAAATTCAAATGCAATTGCCTTGGTA... | GAGTATAACAATTTACCATCATTGACAGAGAATGATTTTGAGATAACCATGTTACATGAGGCATATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTTGATTATTAGATTGGAATTAGTCCTTAATCCCAGTAATAAATTATATTTTGGAGCCTATAATTGCATCTCTGAATGTTGTGTCTACTCTACATAATTTGTATTGAATTCAACTTAAAGTAAGGGACTTAAAATTCAAATGCAATTGCCTTGGTA... |
Task1_train_4121 | Gene IFIH1 (interferon induced with helicase C domain 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aicardi-Goutieres syndrome 7 | ATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTTGATTATTAGATTGGAATTAGTCCTTAATCCCAGTAATAAATTATATTTTGGAGCCTATAATTGCATCTCTGAATGTTGTGTCTACTCTACATAATTTGTATTGAATTCAACTTAAAGTAAGGGACTTAAAATTCAAATGCAATTGCCTTGGTACCAAAATACTTCTTGGGCTACTCTGATTTACTTAACACTCAAGATTAACAGTAGCACTGTATGT... | ATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTTGATTATTAGATTGGAATTAGTCCTTAATCCCAGTAATAAATTATATTTTGGAGCCTATAATTGCATCTCTGAATGTTGTGTCTACTCTACATAATTTGTATTGAATTCAACTTAAAGTAAGGGACTTAAAATTCAAATGCAATTGCCTTGGTACCAAAATACTTCTTGGGCTACTCTGATTTACTTAACACTCAAGATTAACAGTAGCACTGTATGT... |
Task1_train_4122 | The following genetic variant occurs in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Aicardi-Goutieres syndrome 7 | AAGGAACTGTGGACATTTATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATT... | AAGGAACTGTGGACATTTATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATT... |
Task1_train_4123 | Mutation context: Chromosome 2, Gene IFIH1 (interferon induced with helicase C domain 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Singleton-Merten syndrome 1 | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... |
Task1_train_4124 | This variant lies on Chromosome 2 and affects the gene IFIH1 (interferon induced with helicase C domain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aicardi-Goutieres syndrome 7 | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... |
Task1_train_4125 | Here is a genetic alteration in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Singleton-Merten syndrome 1 | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... |
Task1_train_4126 | Consider a variant on Chromosome 2 in gene IFIH1 (interferon induced with helicase C domain 1). Determine its clinical classification and disease relevance. | Pathogenic; Aicardi-Goutieres syndrome 7 | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... | TATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAGGAACTCTAACCGGTGATTGTGGGATTCCAGAGAAACAGATTTGGATGAATACAAATAGGGCTTTCTAAGAGTGTCAGTGTCTTGTTAGTAGGGGGACCTCCTTGATATTAGGAAGTTACCCTGCAGAAGTGAGAGAACCACTCTGCAAAGGAAGAAAGCTGAATCTCGAAGCCCCTTTTCAACTCTATTAGCCTATGTCCCTGTGA... |
Task1_train_4127 | Given this context: Chromosome 2, gene SCN3A (sodium voltage-gated channel alpha subunit 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Epilepsy, familial focal, with variable foci 4 | CACGTTTAAGAGATTATTGTGCCTCAGCCTCCAGAGTAGCTGAGATACAGGTGTGCCCCACCACACCCAGCTAATTTTTGCATTTTGTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTAGATCTCCTGGCCTCAAGTAATCCCCCTGCCTCTGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCAGCCATTTTTCAGAGACAGCCTATCACCTAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTGGCTTGGAATTCCTAGGCTCAAGCAATCCTTCTACTTTAGCCCCCTGAGAA... | CACGTTTAAGAGATTATTGTGCCTCAGCCTCCAGAGTAGCTGAGATACAGGTGTGCCCCACCACACCCAGCTAATTTTTGCATTTTGTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTAGATCTCCTGGCCTCAAGTAATCCCCCTGCCTCTGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCAGCCATTTTTCAGAGACAGCCTATCACCTAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTGGCTTGGAATTCCTAGGCTCAAGCAATCCTTCTACTTTAGCCCCCTGAGAA... |
Task1_train_4128 | Given this context: Chromosome 2, gene SCN3A (sodium voltage-gated channel alpha subunit 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CGTTTAAGAGATTATTGTGCCTCAGCCTCCAGAGTAGCTGAGATACAGGTGTGCCCCACCACACCCAGCTAATTTTTGCATTTTGTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTAGATCTCCTGGCCTCAAGTAATCCCCCTGCCTCTGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCAGCCATTTTTCAGAGACAGCCTATCACCTAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTGGCTTGGAATTCCTAGGCTCAAGCAATCCTTCTACTTTAGCCCCCTGAGAAGT... | CGTTTAAGAGATTATTGTGCCTCAGCCTCCAGAGTAGCTGAGATACAGGTGTGCCCCACCACACCCAGCTAATTTTTGCATTTTGTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTAGATCTCCTGGCCTCAAGTAATCCCCCTGCCTCTGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCAGCCATTTTTCAGAGACAGCCTATCACCTAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTGGCTTGGAATTCCTAGGCTCAAGCAATCCTTCTACTTTAGCCCCCTGAGAAGT... |
Task1_train_4129 | A genomic change on Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Seizures, benign familial infantile, 3 | ATATGGAAAAGGGAGATAAGGCTGTAGTAGTTAAGGAGGGTTGTGAGTCATAGGAGAGAAATATCCTTTCCCCTATGCCAGGACAAGGGAGACGTAAGCAAGTTTGTGTTGCTGGGAAAAAGCCAGTAAGGTGGGAGCCATTAAGGATAAGAAAAGAGAGAGATAAGAGATTGCTGAAGTCTTCTGGAATGGGGAAGGTGTCCAGAATACCGGTGGAGGGATTGGAAACCTCCCCACTGTAACAGGAAGGAGGAAAGAATTGGTCTCAATGTGGAAAAGTTTGTTGATTTGGGGGTGGGAAGTGGAGGCGGGGCATTGTG... | ATATGGAAAAGGGAGATAAGGCTGTAGTAGTTAAGGAGGGTTGTGAGTCATAGGAGAGAAATATCCTTTCCCCTATGCCAGGACAAGGGAGACGTAAGCAAGTTTGTGTTGCTGGGAAAAAGCCAGTAAGGTGGGAGCCATTAAGGATAAGAAAAGAGAGAGATAAGAGATTGCTGAAGTCTTCTGGAATGGGGAAGGTGTCCAGAATACCGGTGGAGGGATTGGAAACCTCCCCACTGTAACAGGAAGGAGGAAAGAATTGGTCTCAATGTGGAAAAGTTTGTTGATTTGGGGGTGGGAAGTGGAGGCGGGGCATTGTG... |
Task1_train_4130 | A genomic change on Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATATGGAAAAGGGAGATAAGGCTGTAGTAGTTAAGGAGGGTTGTGAGTCATAGGAGAGAAATATCCTTTCCCCTATGCCAGGACAAGGGAGACGTAAGCAAGTTTGTGTTGCTGGGAAAAAGCCAGTAAGGTGGGAGCCATTAAGGATAAGAAAAGAGAGAGATAAGAGATTGCTGAAGTCTTCTGGAATGGGGAAGGTGTCCAGAATACCGGTGGAGGGATTGGAAACCTCCCCACTGTAACAGGAAGGAGGAAAGAATTGGTCTCAATGTGGAAAAGTTTGTTGATTTGGGGGTGGGAAGTGGAGGCGGGGCATTGTG... | ATATGGAAAAGGGAGATAAGGCTGTAGTAGTTAAGGAGGGTTGTGAGTCATAGGAGAGAAATATCCTTTCCCCTATGCCAGGACAAGGGAGACGTAAGCAAGTTTGTGTTGCTGGGAAAAAGCCAGTAAGGTGGGAGCCATTAAGGATAAGAAAAGAGAGAGATAAGAGATTGCTGAAGTCTTCTGGAATGGGGAAGGTGTCCAGAATACCGGTGGAGGGATTGGAAACCTCCCCACTGTAACAGGAAGGAGGAAAGAATTGGTCTCAATGTGGAAAAGTTTGTTGATTTGGGGGTGGGAAGTGGAGGCGGGGCATTGTG... |
Task1_train_4131 | The variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Seizures, benign familial infantile, 3 | AGATGCAAATGAACTTTCTTTCTAGATCAACACAACATTGTCCAGTTGTAATAGTGTTGATATTTCATTATGTGTAAGTAATGTGATCATTTATAGTAAAAACATTAGGAGTGAGAAAAGATATGAAGAGCACGTATTTCCTCTCTGGAATTTCTATAATTGTGTCCAGATTCACAATGATAAAGAGTGCCACTTTACATAATGGCAACTAAATCTTTATTATGCTTTTTATTAAATATGAAAGTCATTACTATTATCTGATACTGAATATTTTCTTAAATAGTTGTTTTGGTTTTTGTCTTTTGCTGTTTTTTAATGTC... | AGATGCAAATGAACTTTCTTTCTAGATCAACACAACATTGTCCAGTTGTAATAGTGTTGATATTTCATTATGTGTAAGTAATGTGATCATTTATAGTAAAAACATTAGGAGTGAGAAAAGATATGAAGAGCACGTATTTCCTCTCTGGAATTTCTATAATTGTGTCCAGATTCACAATGATAAAGAGTGCCACTTTACATAATGGCAACTAAATCTTTATTATGCTTTTTATTAAATATGAAAGTCATTACTATTATCTGATACTGAATATTTTCTTAAATAGTTGTTTTGGTTTTTGTCTTTTGCTGTTTTTTAATGTC... |
Task1_train_4132 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 11 | AGATGCAAATGAACTTTCTTTCTAGATCAACACAACATTGTCCAGTTGTAATAGTGTTGATATTTCATTATGTGTAAGTAATGTGATCATTTATAGTAAAAACATTAGGAGTGAGAAAAGATATGAAGAGCACGTATTTCCTCTCTGGAATTTCTATAATTGTGTCCAGATTCACAATGATAAAGAGTGCCACTTTACATAATGGCAACTAAATCTTTATTATGCTTTTTATTAAATATGAAAGTCATTACTATTATCTGATACTGAATATTTTCTTAAATAGTTGTTTTGGTTTTTGTCTTTTGCTGTTTTTTAATGTC... | AGATGCAAATGAACTTTCTTTCTAGATCAACACAACATTGTCCAGTTGTAATAGTGTTGATATTTCATTATGTGTAAGTAATGTGATCATTTATAGTAAAAACATTAGGAGTGAGAAAAGATATGAAGAGCACGTATTTCCTCTCTGGAATTTCTATAATTGTGTCCAGATTCACAATGATAAAGAGTGCCACTTTACATAATGGCAACTAAATCTTTATTATGCTTTTTATTAAATATGAAAGTCATTACTATTATCTGATACTGAATATTTTCTTAAATAGTTGTTTTGGTTTTTGTCTTTTGCTGTTTTTTAATGTC... |
Task1_train_4133 | Assess the clinical impact of this variant on gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Seizures, benign familial infantile, 3 | CCTGCCATCTTCTCTCATAGTTCAGGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGAT... | CCTGCCATCTTCTCTCATAGTTCAGGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGAT... |
Task1_train_4134 | This variant impacts the gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Seizures, benign familial infantile, 3 | GGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGATGGCTTGGCCTGAAGACAAGATCTA... | GGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGATGGCTTGGCCTGAAGACAAGATCTA... |
Task1_train_4135 | Consider this mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 11 | GGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGATGGCTTGGCCTGAAGACAAGATCTA... | GGATTTTATGAGCAATTACAGTATATTATACCCTCTGTTTAGAAAGGACCTTATTATAAGACATTCCACCAGGGTAACTTTTAGAATGATGTTATAATACATTTAATTAATTACTTGAATTGTCTTGTTGAATTTTTGCCAGGGTTTACATATGTGCTGAACTTGCAGTTTTAATGTTCAGTTGAGTCTGTCGTTAAGAAAATTTAAGTTGATAAATTATTCACTGATGAACTACTTTCTTTGCATTTAATCTTTTTAATTGCTAAAGGTACCTAAATAGCCTCAAAATAGTTGATGGCTTGGCCTGAAGACAAGATCTA... |
Task1_train_4136 | Mutation context: Chromosome 2, Gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; West syndrome | TACTAGTATATGTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTT... | TACTAGTATATGTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTT... |
Task1_train_4137 | A genetic alteration is present in SCN2A (sodium voltage-gated channel alpha subunit 2) 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 | TACTAGTATATGTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTT... | TACTAGTATATGTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTT... |
Task1_train_4138 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Seizures, benign familial infantile, 3 | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... |
Task1_train_4139 | This variant affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... |
Task1_train_4140 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... | GTTTGATGGCTTTTAATGGTGCATATTTTATGAAATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTAC... |
Task1_train_4141 | A sequence alteration has been identified in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Benign familial infantile epilepsy | ATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCT... | ATACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCT... |
Task1_train_4142 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Seizures, benign familial infantile, 3 | ACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTG... | ACAAATGCTTCACTCATTTTTGTATTAATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTG... |
Task1_train_4143 | A sequence alteration has been identified in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Seizures, benign familial infantile, 3 | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... |
Task1_train_4144 | This variant lies on Chromosome 2 and affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... |
Task1_train_4145 | With a mutation on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Seizures, benign familial infantile, 3 | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... |
Task1_train_4146 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Seizure | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... | ATACCTATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTAC... |
Task1_train_4147 | A mutation in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Seizures, benign familial infantile, 3 | ATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAAT... | ATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAAT... |
Task1_train_4148 | This is a variant in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAAT... | ATTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAAT... |
Task1_train_4149 | Here is a genetic alteration in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Seizures, benign familial infantile, 3 | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4150 | Assess the clinical impact of this variant on gene SCN2A (sodium voltage-gated channel alpha subunit 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4151 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epileptic encephalopathy | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4152 | This variant impacts the gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Seizures, benign familial infantile, 3 | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4153 | A genomic change on Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Infantile spasms | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4154 | This variant impacts the gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4155 | This variant lies on Chromosome 2 and affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; SCN2A-related disorder | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4156 | This alteration in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... | TTTGCTCAAATCGGACTGAATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATT... |
Task1_train_4157 | A genetic alteration is present in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; West syndrome | ATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATTTATACTTTTGAATCACTTA... | ATGCCAGTGTATTTCAGATTATGTCTTCATATAGAGCCACATTATTTGGATCCTTTAAATTAATTAATGTGGAAAATGCAATATACATTTATTTACAGTCAATGAGAATGTCTTTTGGAATTTAATGTTTCTTTTTTGACTTAAGCCCCACCTAAACTCTATATCGTAGGGGGACCAACCTGGAAGTGTCTAATTTTTGTTTGCTGTTTATGTCATCTTTAAGATATGTACTTGTAAATTAACCACTAGATTTTTAATGTGAGCTTGGCTATTTTCTCTCAGGTATACCTTTACAGGAATTTATACTTTTGAATCACTTA... |
Task1_train_4158 | A variant was discovered in gene SCN2A (sodium voltage-gated channel alpha subunit 2), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GTTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCC... | GTTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCC... |
Task1_train_4159 | The following genetic variant occurs in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GTTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCC... | GTTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCC... |
Task1_train_4160 | Given this variant in gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCCA... | TTTAAGCATGAATAACAAAATCATTCTTTTGCTCTAAAGAGTGTTTGGAAATACACATTTGGTTCATTTCCATTCACAGTTTTCTAATGAACATACAAGTTCTGCTTTCATTCATTTTCACCAGCTAGCAGGCTTTTCATGAAAATGTTATTCAATCACAAACATTAAACTAATATTGTTGGCATTCTGCATGACATTTTTATTTTCCAGGACAAGCTCATGATATTTTTGCCGGTAAAATAGCTGTTGAGTAGTATATTTAAATTCCCCCTTCTGATTTTGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCCA... |
Task1_train_4161 | A variant has been detected on Chromosome 2 in SCN2A (sodium voltage-gated channel alpha subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Complex neurodevelopmental disorder | GCATGAAAACACCTAGAAACAACAAGGCTTTCTTCTTTCTTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAG... | GCATGAAAACACCTAGAAACAACAAGGCTTTCTTCTTTCTTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAG... |
Task1_train_4162 | An alteration has been detected in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Seizures, benign familial infantile, 3 | TTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTC... | TTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTC... |
Task1_train_4163 | Located on Chromosome 2, this mutation impacts SCN2A (sodium voltage-gated channel alpha subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTC... | TTACTTTTTGTGCCCAGCAATAGACTGGCAGCTCTTTCTTAATGTATCCCATGCAATTTGAGCTTATATTTGCAATGAATGCTGATATAAGAATGTTATCATAGTAATTCCTTCTGAACATTTTTCTTTTTAACATAGATTTGCTAACCATTTGTATAATCAAAAATGTTATATATTGATATTTGTTCAATATTGTGAAAAATCTCTTTAGCCATATATATTTATTAGTTTATCCATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTC... |
Task1_train_4164 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Seizures, benign familial infantile, 3 | ATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAG... | ATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAG... |
Task1_train_4165 | Located on Chromosome 2, this mutation impacts SCN2A (sodium voltage-gated channel alpha subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAG... | ATCTCATTATGATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAG... |
Task1_train_4166 | Mutation context: Chromosome 2, Gene SCN2A (sodium voltage-gated channel alpha subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTC... | ATTGAAAACATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTC... |
Task1_train_4167 | Chromosome 2 houses a mutation in gene SCN2A (sodium voltage-gated channel alpha subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; West syndrome | CATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTT... | CATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTT... |
Task1_train_4168 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTT... | CATTTGTGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTT... |
Task1_train_4169 | This variant lies on Chromosome 2 and affects the gene SCN2A (sodium voltage-gated channel alpha subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Seizures, benign familial infantile, 3 | TGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACA... | TGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACA... |
Task1_train_4170 | This mutation is located in gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACA... | TGAGCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACA... |
Task1_train_4171 | A variant was discovered in gene SCN2A (sodium voltage-gated channel alpha subunit 2), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... |
Task1_train_4172 | Here is a variant affecting SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Seizures, benign familial infantile, 3 | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... |
Task1_train_4173 | A genomic change on Chromosome 2 affects SCN2A (sodium voltage-gated channel alpha subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 11 | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... | GCTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTC... |
Task1_train_4174 | A variant has been detected on Chromosome 2 in SCN2A (sodium voltage-gated channel alpha subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Seizures, benign familial infantile, 3 | CTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCA... | CTTTGCCACCTAAACAGGGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCA... |
Task1_train_4175 | A mutation found in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; West syndrome | GGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTT... | GGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTT... |
Task1_train_4176 | This genomic variant is located on Chromosome 2, within the SCN2A (sodium voltage-gated channel alpha subunit 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTT... | GGTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTT... |
Task1_train_4177 | Given a variant located on Chromosome 2 and affecting SCN2A (sodium voltage-gated channel alpha subunit 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTT... | GTGGCTGAAGTGTTTTACAGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTT... |
Task1_train_4178 | Here is a mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Benign familial infantile epilepsy | AGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCT... | AGGATTTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCT... |
Task1_train_4179 | The gene SCN2A (sodium voltage-gated channel alpha subunit 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Seizures, benign familial infantile, 3 | TTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCTAATCT... | TTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCTAATCT... |
Task1_train_4180 | Located on Chromosome 2, this mutation impacts SCN2A (sodium voltage-gated channel alpha subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCTAATCT... | TTTAATGATTCTTTCTATTCCTTTCTCTTTAAATAGGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGGGTAAGTGATGCTTCCTACTGAGTTTCAGTCCACACTGCTCCATCAGTGTCAATAACCTGCCACCTCCCACTCATCCAGTCCCACTCACTCCTCACTCAAAACCCTCCATAAATTCTACTTCACGGTGACTCTCAGAATAGCCAGGATAAGTGTAGATTCTCACCTCTTTCACACAGTCATTTACTGCAATTATTTTTCTATGCTAGGTCACATCTAATCT... |
Task1_train_4181 | The following genetic variant occurs in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Benign familial infantile epilepsy | AGTCTCTTTGCTAAAATATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCATGAGAGACCACTTTAGCCTGGACCTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAG... | AGTCTCTTTGCTAAAATATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCATGAGAGACCACTTTAGCCTGGACCTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAG... |
Task1_train_4182 | Consider this mutation in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TGGTGGGAGGGTGAGTTAGAAGCGCCTGAAGAATCAAGGTGAGCCAGCAAAAGACACAGATTTACTGTAAGTGATTCTATGTGGATAACCCATGCAGGAATAATGGAGATGTGGCTGCAGTTCTCTCCTGAATGCTTTGCTTTGTTTTAAAGTGTGAGATTCCCCCCTTTTTTTTGGAATGAATAATTGAATGATTTTATTTTAGAACTTAAACAACTTTGCTCCGGTTATTCCTACTGTCAAGATGAGCCACACCTGCTGAATTTCATTTTTTAAACTTTTCTCCAGTTTATTTTTTTTCTATCCAGTTCCTGTTTGCT... | TGGTGGGAGGGTGAGTTAGAAGCGCCTGAAGAATCAAGGTGAGCCAGCAAAAGACACAGATTTACTGTAAGTGATTCTATGTGGATAACCCATGCAGGAATAATGGAGATGTGGCTGCAGTTCTCTCCTGAATGCTTTGCTTTGTTTTAAAGTGTGAGATTCCCCCCTTTTTTTTGGAATGAATAATTGAATGATTTTATTTTAGAACTTAAACAACTTTGCTCCGGTTATTCCTACTGTCAAGATGAGCCACACCTGCTGAATTTCATTTTTTAAACTTTTCTCCAGTTTATTTTTTTTCTATCCAGTTCCTGTTTGCT... |
Task1_train_4183 | This is a variant in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 11 | TTTGCTTTGTTTTAAAGTGTGAGATTCCCCCCTTTTTTTTGGAATGAATAATTGAATGATTTTATTTTAGAACTTAAACAACTTTGCTCCGGTTATTCCTACTGTCAAGATGAGCCACACCTGCTGAATTTCATTTTTTAAACTTTTCTCCAGTTTATTTTTTTTCTATCCAGTTCCTGTTTGCTTCTCGTTATTTGCTAAATGACAGCTGGCATGGAAAGAAAAAACCATATTATGGCAGTATACAGACAAAATTAAATTTTGTAGTTTCTTTTTTGTTATTTACTGTAAATAATAATACCTCCTTTTTACCTTCAATG... | TTTGCTTTGTTTTAAAGTGTGAGATTCCCCCCTTTTTTTTGGAATGAATAATTGAATGATTTTATTTTAGAACTTAAACAACTTTGCTCCGGTTATTCCTACTGTCAAGATGAGCCACACCTGCTGAATTTCATTTTTTAAACTTTTCTCCAGTTTATTTTTTTTCTATCCAGTTCCTGTTTGCTTCTCGTTATTTGCTAAATGACAGCTGGCATGGAAAGAAAAAACCATATTATGGCAGTATACAGACAAAATTAAATTTTGTAGTTTCTTTTTTGTTATTTACTGTAAATAATAATACCTCCTTTTTACCTTCAATG... |
Task1_train_4184 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Seizures, benign familial infantile, 3 | TAGGTAGAGAGAGATTCCATTTACTGAGTTAGCAAATATCAGAAGAGAAGCAAAACTGTGGAGAAAAAGCAGTAAGATGAATTTTGGACCTGTTGAATTTGAGATGCCTGGGAGATAGTCTTTCAAATGTAGGTATTGAATAGGCAGGTGGGTATGTATTTCTAGAGACTAGGAGGTATGCTTGAACAGAAAAATAGATTTTGAAATATGAACTATTATAAAAATGTAACTTATTATAAAAGGAAAACTAAAGTAAGAGGGGTCTAGACAGAGAGAGTTCTGAATAAATCCAGTATCAAATGATTTGTTAGAGGAAGAAA... | TAGGTAGAGAGAGATTCCATTTACTGAGTTAGCAAATATCAGAAGAGAAGCAAAACTGTGGAGAAAAAGCAGTAAGATGAATTTTGGACCTGTTGAATTTGAGATGCCTGGGAGATAGTCTTTCAAATGTAGGTATTGAATAGGCAGGTGGGTATGTATTTCTAGAGACTAGGAGGTATGCTTGAACAGAAAAATAGATTTTGAAATATGAACTATTATAAAAATGTAACTTATTATAAAAGGAAAACTAAAGTAAGAGGGGTCTAGACAGAGAGAGTTCTGAATAAATCCAGTATCAAATGATTTGTTAGAGGAAGAAA... |
Task1_train_4185 | This variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 11 | TAGGTAGAGAGAGATTCCATTTACTGAGTTAGCAAATATCAGAAGAGAAGCAAAACTGTGGAGAAAAAGCAGTAAGATGAATTTTGGACCTGTTGAATTTGAGATGCCTGGGAGATAGTCTTTCAAATGTAGGTATTGAATAGGCAGGTGGGTATGTATTTCTAGAGACTAGGAGGTATGCTTGAACAGAAAAATAGATTTTGAAATATGAACTATTATAAAAATGTAACTTATTATAAAAGGAAAACTAAAGTAAGAGGGGTCTAGACAGAGAGAGTTCTGAATAAATCCAGTATCAAATGATTTGTTAGAGGAAGAAA... | TAGGTAGAGAGAGATTCCATTTACTGAGTTAGCAAATATCAGAAGAGAAGCAAAACTGTGGAGAAAAAGCAGTAAGATGAATTTTGGACCTGTTGAATTTGAGATGCCTGGGAGATAGTCTTTCAAATGTAGGTATTGAATAGGCAGGTGGGTATGTATTTCTAGAGACTAGGAGGTATGCTTGAACAGAAAAATAGATTTTGAAATATGAACTATTATAAAAATGTAACTTATTATAAAAGGAAAACTAAAGTAAGAGGGGTCTAGACAGAGAGAGTTCTGAATAAATCCAGTATCAAATGATTTGTTAGAGGAAGAAA... |
Task1_train_4186 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | AGTAAAAATGGCAAGATTTCCCATCATTATAATATTATTTGAATACACTTCTAAAACAAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGA... | AGTAAAAATGGCAAGATTTCCCATCATTATAATATTATTTGAATACACTTCTAAAACAAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGA... |
Task1_train_4187 | The variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 11 | CTTCTAAAACAAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGT... | CTTCTAAAACAAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGT... |
Task1_train_4188 | This is a variant in SCN2A (sodium voltage-gated channel alpha subunit 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | AAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGG... | AAATTGGATTGCCATACCACCAAATGGTAGTTTCTTCTTCATCATAGCTTTAATAAAGTTCACTTAAATGAATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGG... |
Task1_train_4189 | A variant was discovered on Chromosome 2, affecting SCN2A (sodium voltage-gated channel alpha subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCAC... | AATAGTCTACACTTCTCTTCTTAGTTATTGAATGGAAGGCTAATAGAGAGGAGGAAACAGGGAGTCACAGATAAACTCGAATCACAATTAAACAACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCAC... |
Task1_train_4190 | This variant impacts the gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... |
Task1_train_4191 | Chromosome 2 houses a mutation in gene SCN2A (sodium voltage-gated channel alpha subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Seizures, benign familial infantile, 3 | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... |
Task1_train_4192 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... | ACACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTA... |
Task1_train_4193 | With a mutation on Chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Seizures, benign familial infantile, 3 | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... |
Task1_train_4194 | A sequence alteration has been identified in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy, 11 | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... |
Task1_train_4195 | A variant was discovered in gene SCN2A (sodium voltage-gated channel alpha subunit 2), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Episodic ataxia, type 9 | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... | CACCATAGTCAACTCTCAGTTATCTGAGGTTTGCATAACTGCGTACAAAGCTTCCTTGGGACCTAGGATGAGCTCCCCTTTCTGCCAGGAACTAAAGAATTATGGAATTGTTCATTGCTCACCTTGTCCCCGTAGAGGAAAGAGTTAAGACAGGGGATAGTGTACAAAGGAGAAGGATAAGCAAACAGAGCTCCCCATATGACTGCTGCCACATCAGAAAATCACCAAATCACTCTTTGAAAGAGTTAACTGTACTATATTTTGTTAATTTTAAAGAAAGTATCTTTCTTTGATCTTTTATAAAAACTATTAGATCTTAA... |
Task1_train_4196 | The following genetic variant occurs in SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Seizures, benign familial infantile, 3 | AAAAATTTTACATGCAATTTTTTCTTCCTTTGTCTGTTTTTTTAATCCAAATAATAAGTTCAAAAGCAAATTACAATAAAACATAATTTTATTGGTAAATTCCAGAGGCAAAGGAGCAGGTCTGGTCTTAATGTGATTATCAGGAGTCATAGTATAGAGACTGACAGATTGTCAGTACACTCTCAAAATCAAACGTGGTCTTCATTGGATCTTACATATTTTTACTTTAAAAAAAATCACCATTGGTTAGACTAACTTACAACTAATTAGACAAAGGTGCTGTAAGCCTCATTAGCATGATAGAAGCATGAGAATATAGC... | AAAAATTTTACATGCAATTTTTTCTTCCTTTGTCTGTTTTTTTAATCCAAATAATAAGTTCAAAAGCAAATTACAATAAAACATAATTTTATTGGTAAATTCCAGAGGCAAAGGAGCAGGTCTGGTCTTAATGTGATTATCAGGAGTCATAGTATAGAGACTGACAGATTGTCAGTACACTCTCAAAATCAAACGTGGTCTTCATTGGATCTTACATATTTTTACTTTAAAAAAAATCACCATTGGTTAGACTAACTTACAACTAATTAGACAAAGGTGCTGTAAGCCTCATTAGCATGATAGAAGCATGAGAATATAGC... |
Task1_train_4197 | This gene mutation involves SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 11 | AAAAATTTTACATGCAATTTTTTCTTCCTTTGTCTGTTTTTTTAATCCAAATAATAAGTTCAAAAGCAAATTACAATAAAACATAATTTTATTGGTAAATTCCAGAGGCAAAGGAGCAGGTCTGGTCTTAATGTGATTATCAGGAGTCATAGTATAGAGACTGACAGATTGTCAGTACACTCTCAAAATCAAACGTGGTCTTCATTGGATCTTACATATTTTTACTTTAAAAAAAATCACCATTGGTTAGACTAACTTACAACTAATTAGACAAAGGTGCTGTAAGCCTCATTAGCATGATAGAAGCATGAGAATATAGC... | AAAAATTTTACATGCAATTTTTTCTTCCTTTGTCTGTTTTTTTAATCCAAATAATAAGTTCAAAAGCAAATTACAATAAAACATAATTTTATTGGTAAATTCCAGAGGCAAAGGAGCAGGTCTGGTCTTAATGTGATTATCAGGAGTCATAGTATAGAGACTGACAGATTGTCAGTACACTCTCAAAATCAAACGTGGTCTTCATTGGATCTTACATATTTTTACTTTAAAAAAAATCACCATTGGTTAGACTAACTTACAACTAATTAGACAAAGGTGCTGTAAGCCTCATTAGCATGATAGAAGCATGAGAATATAGC... |
Task1_train_4198 | Gene SCN2A (sodium voltage-gated channel alpha subunit 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GATATTTACCTTTTTAGATTTAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGAT... | GATATTTACCTTTTTAGATTTAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGAT... |
Task1_train_4199 | This variant affects gene SCN2A (sodium voltage-gated channel alpha subunit 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CCTTTTTAGATTTAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAA... | CCTTTTTAGATTTAAGAAAACTATTATGATAGTATATGAAACTGATCAACACTTTGCCTTAAATCAAATATGCTTATTGCTCATCTATTTCATTATGAAAGATACAAATATAAATAAGTCATTTTTCTAGTCCTGCAGTAGCTTACAGTTGAAAAGTGAGGACAGCTGCGTACACAGTAAGTCGACACCTGTATTACAAGTGCCACCTCTTTACTTGAGGAAGGAGGAAAGGCTTCAATAGGGAAGTGGAGTGTGAGCTGGAGCTTGAGAGATGTGAATGCTAGCAGGCACAGCTGAGGGAGGAACACGGATTCGTTAAA... |
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