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_17700 | A sequence alteration has been identified in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | TCCATACCACCCATTAGATCACCATTATATGAGGTTAGCCCTGAGCAGTGCCATTTTCCCAATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTT... | TCCATACCACCCATTAGATCACCATTATATGAGGTTAGCCCTGAGCAGTGCCATTTTCCCAATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTT... |
Task1_train_17701 | A change on Chromosome 12 affects gene SCN8A (sodium voltage-gated channel alpha subunit 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TTAGCCCTGAGCAGTGCCATTTTCCCAATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTTGTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGT... | TTAGCCCTGAGCAGTGCCATTTTCCCAATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTTGTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGT... |
Task1_train_17702 | A variant has been detected on Chromosome 12 in SCN8A (sodium voltage-gated channel alpha subunit 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTTGTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTTGACCAGGCTGGAGTGCAGTGGCGCAA... | ATCATGTCCCTTTGAGGAGGGTACCATATGTAAAATAGTGATAACAAGTGTTGAGTGCCAGCTATGTGCCAGGAACTTTACTAGGTATTTTATATAAATTATCTATTTAAACCTAACAACAACCCAATGAGGTTGGTATTGTAAATCCATTTTTATAGATGAGTAGACTGAGGTTCAGACAATAATGGTCAACATTTGACTCATTTGCTATGTACTAAATGCTTTGTGAAGTTTTTTTTGTTTTTGTTTTTTTGTTGTTGTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTTGACCAGGCTGGAGTGCAGTGGCGCAA... |
Task1_train_17703 | A mutation on Chromosome 12 affecting SCN8A (sodium voltage-gated channel alpha subunit 8) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TCCCTTTGATTCAAGTACCAGAATCTGGCATATAGATTTGAAGTATGAATGGAAGTTGGGTGTCTGTGAAAACTATATTGCATCAAGAACTTTGGGATAGCACTTTTAATTTGTAAATATATATAAGAAAATCATTAATAGGAAAGAATTCTTATCAGCTGTCACAGCTGTTGGAAAAGATTTATGAGCTAAAGTCAATAACTTTCTGCTGGGGCTAGTTAGGAACAGTGTAACCTTATTCTCTCATTCACTTAAATCTGCCTGTTCATTTCCTGCCTCTTCAAACTTTTCTAGCAAATTTCTACACAGTTCCTGGCATG... | TCCCTTTGATTCAAGTACCAGAATCTGGCATATAGATTTGAAGTATGAATGGAAGTTGGGTGTCTGTGAAAACTATATTGCATCAAGAACTTTGGGATAGCACTTTTAATTTGTAAATATATATAAGAAAATCATTAATAGGAAAGAATTCTTATCAGCTGTCACAGCTGTTGGAAAAGATTTATGAGCTAAAGTCAATAACTTTCTGCTGGGGCTAGTTAGGAACAGTGTAACCTTATTCTCTCATTCACTTAAATCTGCCTGTTCATTTCCTGCCTCTTCAAACTTTTCTAGCAAATTTCTACACAGTTCCTGGCATG... |
Task1_train_17704 | Mutation context: Chromosome 12, Gene SCN8A (sodium voltage-gated channel alpha subunit 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cognitive impairment with or without cerebellar ataxia | TCCTCCCACTGTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCATTAGGGCTTCTGTTTAAGAAAAATTAAACACCTCTTTGTGCAAGGCACTATATAGATGGAATTTCCATAAGGACCTTGGAGTATATCAACATTTTTGAGATTTGTAACACATTTGGATTTGTTCAAGCAGGTTGTACAGATAAAAATAAGGTCAGTAACATTCTGTTGGGCTACACTGGTGACTCTGGACAAGTCATTTAACTTTGCTGGTTGTAATGAAGTTAGTGTAAGTGATTGCTAAGTGTCTTACAGCTTAGAAATTTTATGAC... | TCCTCCCACTGTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCATTAGGGCTTCTGTTTAAGAAAAATTAAACACCTCTTTGTGCAAGGCACTATATAGATGGAATTTCCATAAGGACCTTGGAGTATATCAACATTTTTGAGATTTGTAACACATTTGGATTTGTTCAAGCAGGTTGTACAGATAAAAATAAGGTCAGTAACATTCTGTTGGGCTACACTGGTGACTCTGGACAAGTCATTTAACTTTGCTGGTTGTAATGAAGTTAGTGTAAGTGATTGCTAAGTGTCTTACAGCTTAGAAATTTTATGAC... |
Task1_train_17705 | A mutation found in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 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 | TCCTCCCACTGTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCATTAGGGCTTCTGTTTAAGAAAAATTAAACACCTCTTTGTGCAAGGCACTATATAGATGGAATTTCCATAAGGACCTTGGAGTATATCAACATTTTTGAGATTTGTAACACATTTGGATTTGTTCAAGCAGGTTGTACAGATAAAAATAAGGTCAGTAACATTCTGTTGGGCTACACTGGTGACTCTGGACAAGTCATTTAACTTTGCTGGTTGTAATGAAGTTAGTGTAAGTGATTGCTAAGTGTCTTACAGCTTAGAAATTTTATGAC... | TCCTCCCACTGTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCATTAGGGCTTCTGTTTAAGAAAAATTAAACACCTCTTTGTGCAAGGCACTATATAGATGGAATTTCCATAAGGACCTTGGAGTATATCAACATTTTTGAGATTTGTAACACATTTGGATTTGTTCAAGCAGGTTGTACAGATAAAAATAAGGTCAGTAACATTCTGTTGGGCTACACTGGTGACTCTGGACAAGTCATTTAACTTTGCTGGTTGTAATGAAGTTAGTGTAAGTGATTGCTAAGTGTCTTACAGCTTAGAAATTTTATGAC... |
Task1_train_17706 | Gene SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 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 | GGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTG... | GGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTG... |
Task1_train_17707 | Located on Chromosome 12, this mutation impacts SCN8A (sodium voltage-gated channel alpha subunit 8). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 13 | GGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTG... | GGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTG... |
Task1_train_17708 | A change on Chromosome 12 affects gene SCN8A (sodium voltage-gated channel alpha subunit 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GAGAAACCTCCGATGGGTTTACACTAAGGGTGAAATGTATGTCAGGATTTGATGAGCTGTCTGTACTTTCCCTGAACTCACTCAGAGGGATGTTCCATCTATAGATGCTTAACTTGTATTATGAACTTTGATTTTACTTAACTGGATCTCTTTGTGGAATTTTTTTTTCAATTTTAGAATATTGCATCTTCAATCTAGAAACATGAGGAACTACAGAAAAGCATATGAACACCGAAAACCTATAGGCCACTTATCCATTTTGATGTATTTTAGTCATCATTCTGTTTTTTTATTGCTGTTTATTAATTCAGTATATTTCC... | GAGAAACCTCCGATGGGTTTACACTAAGGGTGAAATGTATGTCAGGATTTGATGAGCTGTCTGTACTTTCCCTGAACTCACTCAGAGGGATGTTCCATCTATAGATGCTTAACTTGTATTATGAACTTTGATTTTACTTAACTGGATCTCTTTGTGGAATTTTTTTTTCAATTTTAGAATATTGCATCTTCAATCTAGAAACATGAGGAACTACAGAAAAGCATATGAACACCGAAAACCTATAGGCCACTTATCCATTTTGATGTATTTTAGTCATCATTCTGTTTTTTTATTGCTGTTTATTAATTCAGTATATTTCC... |
Task1_train_17709 | A mutation on Chromosome 12 affecting SCN8A (sodium voltage-gated channel alpha subunit 8) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 13 | ATGGGTTTACACTAAGGGTGAAATGTATGTCAGGATTTGATGAGCTGTCTGTACTTTCCCTGAACTCACTCAGAGGGATGTTCCATCTATAGATGCTTAACTTGTATTATGAACTTTGATTTTACTTAACTGGATCTCTTTGTGGAATTTTTTTTTCAATTTTAGAATATTGCATCTTCAATCTAGAAACATGAGGAACTACAGAAAAGCATATGAACACCGAAAACCTATAGGCCACTTATCCATTTTGATGTATTTTAGTCATCATTCTGTTTTTTTATTGCTGTTTATTAATTCAGTATATTTCCAAACAGCATCTA... | ATGGGTTTACACTAAGGGTGAAATGTATGTCAGGATTTGATGAGCTGTCTGTACTTTCCCTGAACTCACTCAGAGGGATGTTCCATCTATAGATGCTTAACTTGTATTATGAACTTTGATTTTACTTAACTGGATCTCTTTGTGGAATTTTTTTTTCAATTTTAGAATATTGCATCTTCAATCTAGAAACATGAGGAACTACAGAAAAGCATATGAACACCGAAAACCTATAGGCCACTTATCCATTTTGATGTATTTTAGTCATCATTCTGTTTTTTTATTGCTGTTTATTAATTCAGTATATTTCCAAACAGCATCTA... |
Task1_train_17710 | This variant affects the gene SCN8A (sodium voltage-gated channel alpha subunit 8) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cognitive impairment with or without cerebellar ataxia | AGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAACAGAGATTTCACTCAGTCAAA... | AGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAACAGAGATTTCACTCAGTCAAA... |
Task1_train_17711 | A variant affecting Chromosome 12, within the gene SCN8A (sodium voltage-gated channel alpha subunit 8), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 13 | CTGCCAAATTTTTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAAGCCACTCTGTTGAAAACAATATGAGTGGCCCAGATGTCTGCATATAGGGTAACACCTGGTAAATATTGAACTCTCTGATAAGATAACTTTTCAATTAAAAAAAAGTTAAAATTGTGCTGTTGCCTTCTACCAAAATTCCTATTACATTCTATGTTAGTTATTTGTTAGCATATGAC... | CTGCCAAATTTTTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAAGCCACTCTGTTGAAAACAATATGAGTGGCCCAGATGTCTGCATATAGGGTAACACCTGGTAAATATTGAACTCTCTGATAAGATAACTTTTCAATTAAAAAAAAGTTAAAATTGTGCTGTTGCCTTCTACCAAAATTCCTATTACATTCTATGTTAGTTATTTGTTAGCATATGAC... |
Task1_train_17712 | Gene SCN8A (sodium voltage-gated channel alpha subunit 8), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAAGCCACTCTGTTGAAAACAATATGAGTGGCCCAGATGTCTGCATATAGGGTAACACCTGGTAAATATTGAACTCTCTGATAAGATAACTTTTCAATTAAAAAAAAGTTAAAATTGTGCTGTTGCCTTCTACCAAAATTCCTATTACATTCTATGTTAGTTATTTGTTAGCATATGACATCTAATGATG... | TTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAAGCCACTCTGTTGAAAACAATATGAGTGGCCCAGATGTCTGCATATAGGGTAACACCTGGTAAATATTGAACTCTCTGATAAGATAACTTTTCAATTAAAAAAAAGTTAAAATTGTGCTGTTGCCTTCTACCAAAATTCCTATTACATTCTATGTTAGTTATTTGTTAGCATATGACATCTAATGATG... |
Task1_train_17713 | Consider a variant on Chromosome 12 in gene SCN8A (sodium voltage-gated channel alpha subunit 8). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TGACTCAAAAGTACACTAAAGTTTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTT... | TGACTCAAAAGTACACTAAAGTTTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTT... |
Task1_train_17714 | A change on Chromosome 12 affects gene SCN8A (sodium voltage-gated channel alpha subunit 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | AAAAGTACACTAAAGTTTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTTCTCACT... | AAAAGTACACTAAAGTTTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTTCTCACT... |
Task1_train_17715 | The gene SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 13 | TTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTTCTCACTACTTCAGTGACTATAA... | TTGAGAAAGGACTATCTTACAGATCAGGCCCCTAATCCCACCTGCAAGTGTAGGGCAAAGAGGACTGGAAGAAGACAAGCTTATCTGTCCCTTAACATGCTCATCCACATTAGTTCTCTTCCTTTTTCTGCCACAGAGAAGCATGACAGTAAAAGGCTCCTACTCACCAGCCTCTGAACCAGCTACAACTATTCTGTTCTTCCATTTGACCTACAAAAAAAATAGCTACTGTAATGTTTAATTCTTCCTATTCTCCATTCCCAGCCACCTTTCCCTCAGTCCTAATCCCTCTAGTCTTCTCACTACTTCAGTGACTATAA... |
Task1_train_17716 | This sequence change occurs on Chromosome 12, altering SCN8A (sodium voltage-gated channel alpha subunit 8). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AATTCACAGACACAGGATCAAAGAATTAAAGCCCTAGGATAGAGATAAAAAGCAGCAAATGAAACTAATTTGTAGATTGTTTCTTTTTTTTTCCTCTCTAAATTTTCTTTAAAATATCATCAATTTAAGTAAGCTAAGCTGATATGCAACCACCACTTCCCAGTAGGAAGAATTTAAGAGCTGTTGATGGAAATATCTTAACCTATCCTAGAATTTGTGTTGTAAGAAACCCAGAACCCAGCCAGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTG... | AATTCACAGACACAGGATCAAAGAATTAAAGCCCTAGGATAGAGATAAAAAGCAGCAAATGAAACTAATTTGTAGATTGTTTCTTTTTTTTTCCTCTCTAAATTTTCTTTAAAATATCATCAATTTAAGTAAGCTAAGCTGATATGCAACCACCACTTCCCAGTAGGAAGAATTTAAGAGCTGTTGATGGAAATATCTTAACCTATCCTAGAATTTGTGTTGTAAGAAACCCAGAACCCAGCCAGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTG... |
Task1_train_17717 | A variant was discovered on Chromosome 12, affecting SCN8A (sodium voltage-gated channel alpha subunit 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GACACAGGATCAAAGAATTAAAGCCCTAGGATAGAGATAAAAAGCAGCAAATGAAACTAATTTGTAGATTGTTTCTTTTTTTTTCCTCTCTAAATTTTCTTTAAAATATCATCAATTTAAGTAAGCTAAGCTGATATGCAACCACCACTTCCCAGTAGGAAGAATTTAAGAGCTGTTGATGGAAATATCTTAACCTATCCTAGAATTTGTGTTGTAAGAAACCCAGAACCCAGCCAGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGC... | GACACAGGATCAAAGAATTAAAGCCCTAGGATAGAGATAAAAAGCAGCAAATGAAACTAATTTGTAGATTGTTTCTTTTTTTTTCCTCTCTAAATTTTCTTTAAAATATCATCAATTTAAGTAAGCTAAGCTGATATGCAACCACCACTTCCCAGTAGGAAGAATTTAAGAGCTGTTGATGGAAATATCTTAACCTATCCTAGAATTTGTGTTGTAAGAAACCCAGAACCCAGCCAGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGC... |
Task1_train_17718 | A sequence alteration has been identified in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy, 13 | CTTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAG... | CTTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAG... |
Task1_train_17719 | Given this variant in gene SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAG... | CTTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAG... |
Task1_train_17720 | This sequence variant lies in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 13 | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... |
Task1_train_17721 | A variant has been detected on Chromosome 12 in SCN8A (sodium voltage-gated channel alpha subunit 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Seizures, benign familial infantile, 5 | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... |
Task1_train_17722 | This alteration occurs within gene SCN8A (sodium voltage-gated channel alpha subunit 8) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... | TTCTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGT... |
Task1_train_17723 | Here is a variant affecting SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Complex neurodevelopmental disorder | AGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGAC... | AGCCAAGATTGCACCACTGCACTCCAGCCTGGTCGACAGAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGAC... |
Task1_train_17724 | Assess the clinical impact of this variant on gene SCN8A (sodium voltage-gated channel alpha subunit 8), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 13 | GAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGACAGGTTAGACTGGGTTTGAGTAGAAGCATAGTCAGAAGA... | GAGTGAGACCCTTTCTCAAAAAAAGTAAATAAAAAGTTTTCCTCTGGTTATGATTAAAGTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGACAGGTTAGACTGGGTTTGAGTAGAAGCATAGTCAGAAGA... |
Task1_train_17725 | Given a variant located on Chromosome 12 and affecting SCN8A (sodium voltage-gated channel alpha subunit 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGACAGGTTAGACTGGGTTTGAGTAGAAGCATAGTCAGAAGAGTTCCTGGAGGAAGTAGGTTCTGAATTGAGATTAAAAAGCAGCATGCCTTGGTTTCAA... | GTACATTTGCATCTTATAAAACTTTGGATTTTATAGGATTTTATATCATATCAGAGAAAAAGGCTCTGAATATTTTTGTATATTGATTCATTTGATCAAATGGATCAATATGTAAAATTTTCTATATACTTTATGAGAATAAAAGTTCAAAGAGATCACGTTAATGTTTCTTCCCTATGGTAAATATTAACCCATATTTAACTGTAACCCATAGTATGTGGGACAGGTTAGACTGGGTTTGAGTAGAAGCATAGTCAGAAGAGTTCCTGGAGGAAGTAGGTTCTGAATTGAGATTAAAAAGCAGCATGCCTTGGTTTCAA... |
Task1_train_17726 | Here’s a variant in SCN8A (sodium voltage-gated channel alpha subunit 8) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTAACTATCTAGATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTT... | TTTAACTATCTAGATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTT... |
Task1_train_17727 | The gene SCN8A (sodium voltage-gated channel alpha subunit 8) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 13 | TAGATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAA... | TAGATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAA... |
Task1_train_17728 | Chromosome 12 houses a mutation in gene SCN8A (sodium voltage-gated channel alpha subunit 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 13 | ATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAAT... | ATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAAT... |
Task1_train_17729 | A mutation in SCN8A (sodium voltage-gated channel alpha subunit 8), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAAT... | ATAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAAT... |
Task1_train_17730 | A mutation found in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 13 | TAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAATT... | TAATTTTCTTTTGCCTAATTTCATTCTTTCGTGCTTAGTTTTCACTGCCTCTCTCACCAGTGTTTCAGAATGTGTGACAAGACAACATAATGCAGTGAAAGCTCGTAGGCTTTGAAATTAGACTGTTATAGATTTGAACATACTCTGATACTTACTGGATATGTAACTTTGGACAAATTATTCAGCCTCTCTGATTCTCTGTTTCTTCATCTATTAAATATAGATAATGACACTTTGCATGGTTGTTAAGAGGATTTGTGATTTTTAAAAATTTCTTAGCACAATTCCCAGCATATAACCATGCTTAATTAATGAAAATT... |
Task1_train_17731 | This mutation occurs in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 13 | CATTTTCAGTAGATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTC... | CATTTTCAGTAGATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTC... |
Task1_train_17732 | This variant lies on Chromosome 12 and affects the gene SCN8A (sodium voltage-gated channel alpha subunit 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTTCAGTAGATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGT... | TTTCAGTAGATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGT... |
Task1_train_17733 | Located on Chromosome 12, this mutation impacts SCN8A (sodium voltage-gated channel alpha subunit 8). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... |
Task1_train_17734 | This mutation is located in gene SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Seizures, benign familial infantile, 5 | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... |
Task1_train_17735 | This sequence variant lies in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Epilepsy | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... |
Task1_train_17736 | The gene SCN8A (sodium voltage-gated channel alpha subunit 8) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 13 | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... | ATTCCTGCCATTCACTCATAAAAGTTTTCCCTAACTTTAGGCAGGCTTCTCAGGCCCATGTTTTTGAGTCCTTTCGTAAAGCCTTAATCCCATTACCATTTTCAACATGTTTATTTGCCAAACTTTGTTGTTATTTTCAGGAACAAAGCCCTCCTGGGACCTGTAGTAACAAACAGAAAATTCTGTGTCCAAGGGAGGCTGCACCCAAACCCCTGTTCTGTGTTCTCACTGAACCTAAGCCTGGCCTTTGGGACCCCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGC... |
Task1_train_17737 | A variant on Chromosome 12 in gene SCN8A (sodium voltage-gated channel alpha subunit 8) 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 | CAGCTACTGAGAAGGCTGAGGTGAGAGGATGGCGTGAGTCCAGGAGTCAGGGCTGCAGAGGATATGGTAAGCTATATCATGCCACTGCACTCCAGCCTGGGGAAGACAGCGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGGAACCAAAGAGCTGGGGAAAGAGATTCCTGGCAGAATACACAAGACCCCAGAAGCAGAAAACAGTGTGGCCAGGGGGTGGCGAGCCAGAGGAGGGACATTGATGAGCAGAGTCAGACTGTGCCAGGTGTCTCCCCGTAAGCCAGGTTAACAAATAGGGATTGTGTTGC... | CAGCTACTGAGAAGGCTGAGGTGAGAGGATGGCGTGAGTCCAGGAGTCAGGGCTGCAGAGGATATGGTAAGCTATATCATGCCACTGCACTCCAGCCTGGGGAAGACAGCGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGGAACCAAAGAGCTGGGGAAAGAGATTCCTGGCAGAATACACAAGACCCCAGAAGCAGAAAACAGTGTGGCCAGGGGGTGGCGAGCCAGAGGAGGGACATTGATGAGCAGAGTCAGACTGTGCCAGGTGTCTCCCCGTAAGCCAGGTTAACAAATAGGGATTGTGTTGC... |
Task1_train_17738 | Here is a mutation in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCCAGGGGGTGGCGAGCCAGAGGAGGGACATTGATGAGCAGAGTCAGACTGTGCCAGGTGTCTCCCCGTAAGCCAGGTTAACAAATAGGGATTGTGTTGCAAGCCCAGTGGGAAGCTCTTGAAAGGTTTTAAGTAGGGGAATGATGTGATCCATTTGTTTTTTGTTTTATGTTTTGAGACAGAGTCTCTCTCTGTTAACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCTGCCACCATGCCCG... | GGCCAGGGGGTGGCGAGCCAGAGGAGGGACATTGATGAGCAGAGTCAGACTGTGCCAGGTGTCTCCCCGTAAGCCAGGTTAACAAATAGGGATTGTGTTGCAAGCCCAGTGGGAAGCTCTTGAAAGGTTTTAAGTAGGGGAATGATGTGATCCATTTGTTTTTTGTTTTATGTTTTGAGACAGAGTCTCTCTCTGTTAACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCTGCCACCATGCCCG... |
Task1_train_17739 | This variant impacts the gene SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... |
Task1_train_17740 | A variant has been detected on Chromosome 12 in SCN8A (sodium voltage-gated channel alpha subunit 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 13 | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... |
Task1_train_17741 | Consider this mutation in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... | TTTACCTGCTGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCA... |
Task1_train_17742 | Chromosome 12 houses a mutation in gene SCN8A (sodium voltage-gated channel alpha subunit 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | TGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGA... | TGATACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGA... |
Task1_train_17743 | This sequence change occurs on Chromosome 12, altering SCN8A (sodium voltage-gated channel alpha subunit 8). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATA... | TACTGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATA... |
Task1_train_17744 | The variant affects gene SCN8A (sodium voltage-gated channel alpha subunit 8), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | TGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCT... | TGGTTTCTTTTCTTTTTCTCTTTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCTCTGCCTGTCGCCCAGGCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCT... |
Task1_train_17745 | This genomic variant is located on Chromosome 12, within the SCN8A (sodium voltage-gated channel alpha subunit 8) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGG... | GCTGGGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGG... |
Task1_train_17746 | Mutation context: Chromosome 12, Gene SCN8A (sodium voltage-gated channel alpha subunit 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Epileptic encephalopathy | TCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAG... | TCAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAG... |
Task1_train_17747 | This variant affects the gene SCN8A (sodium voltage-gated channel alpha subunit 8) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAGC... | CAGCTCACTGCAACCTCTGCCTCCCAGGCTCACGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGGTTACAGGCATGCGCCACCGCGCCCAGCTAATTTTTGTACCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAGC... |
Task1_train_17748 | A genomic change on Chromosome 12 affects SCN8A (sodium voltage-gated channel alpha subunit 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Myoclonus, familial, 2 | ATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTT... | ATTCTCATGCCTCAGCCTCCTGAATAGCTGGAATTACACTTGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTT... |
Task1_train_17749 | Here is a genetic alteration in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cognitive impairment with or without cerebellar ataxia | CACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGA... | CACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGA... |
Task1_train_17750 | A variant on Chromosome 12 in gene SCN8A (sodium voltage-gated channel alpha subunit 8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 13 | CACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGA... | CACTTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGA... |
Task1_train_17751 | A mutation found in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 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 | TGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGAAATTTGATTCCATTGTGG... | TGCTGGATTACAGGCATGAGCCATTGCGCCCAGCCTGATACTGGTTTCTGATTCACGACTTGCAGCACAAAATCTATCAGCTCAGAGTTGAAAGTCACTCCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGAAATTTGATTCCATTGTGG... |
Task1_train_17752 | A mutation found in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12 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 | CCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGAAATTTGATTCCATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCA... | CCTGAGAGTCCCTTTAGTTTTCTAGGCTAGTTTGGTAGACTAGGGAGGTAGGGCTATGGGAAACCAAAGATGTTTTTTCAGAGCAAAGAAGAAGATACTTTGAAAATTGCTAGCATTAGAGAATAAGTAAGACATCAAAGTTAAAGGATAATGAGGTTATGAGGTGTAGCCAGGACCTCTCATTTATTGTTTGTGGATATGGAAATTTGATTCCATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCA... |
Task1_train_17753 | Assess the clinical impact of this variant on gene SCN8A (sodium voltage-gated channel alpha subunit 8), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 13 | TGGATATGGAAATTTGATTCCATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGG... | TGGATATGGAAATTTGATTCCATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGG... |
Task1_train_17754 | This genomic variant is located on Chromosome 12, within the SCN8A (sodium voltage-gated channel alpha subunit 8) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... |
Task1_train_17755 | A mutation on Chromosome 12 affecting SCN8A (sodium voltage-gated channel alpha subunit 8) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; See cases | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... |
Task1_train_17756 | Mutation context: Chromosome 12, Gene SCN8A (sodium voltage-gated channel alpha subunit 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 13 | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... |
Task1_train_17757 | A change on Chromosome 12 affects gene SCN8A (sodium voltage-gated channel alpha subunit 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... |
Task1_train_17758 | A variant was discovered in gene SCN8A (sodium voltage-gated channel alpha subunit 8), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Epileptic encephalopathy | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... | CATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAAC... |
Task1_train_17759 | Chromosome 12 houses a mutation in gene SCN8A (sodium voltage-gated channel alpha subunit 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Complex neurodevelopmental disorder | ATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAACC... | ATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAACC... |
Task1_train_17760 | A genetic alteration is present in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | ATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAACC... | ATTGTGGAGAGTATCAGTATCATCTTGGAAAATCATATGTGCACAAATCTGGAAAAAAAACCTAATCATTCTTGAGTAGAAAAACAAGTAAATGAGGACCTATTCATAAAAGGGACTACCACTCAATTGTTAGAATGAGTAATCTAAAATTATTTCAACATGAGGGATCAGTCTCACAATTGTAATGTTAAATCTCAAAAACAAGGTAGAGACCTAAATAGATGGACCTCATAAGACAAATACAGCCTGGATGTGGCAGTTCACACCCGTAATCCCAGCACTTTGGGAGGTTGAGGAGGGAGGATCGGATTGCTTGAACC... |
Task1_train_17761 | Chromosome 12 houses a mutation in gene ACVRL1 (activin A receptor like type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCC... | TCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCC... |
Task1_train_17762 | Gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCA... | GAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCA... |
Task1_train_17763 | Given this variant in gene ACVRL1 (activin A receptor like type 1) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGG... | ACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGG... |
Task1_train_17764 | Located on Chromosome 12, this mutation impacts ACVRL1 (activin A receptor like type 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... |
Task1_train_17765 | Given a variant located on Chromosome 12 and affecting ACVRL1 (activin A receptor like type 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... |
Task1_train_17766 | The gene ACVRL1 (activin A receptor like type 1), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... | ACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAG... |
Task1_train_17767 | Here is a mutation in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiovascular phenotype | ATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGG... | ATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGG... |
Task1_train_17768 | Here’s a variant in ACVRL1 (activin A receptor like type 1) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGG... | ATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGG... |
Task1_train_17769 | Given a variant located on Chromosome 12 and affecting ACVRL1 (activin A receptor like type 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | GCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGA... | GCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGA... |
Task1_train_17770 | A variant affecting Chromosome 12, within the gene ACVRL1 (activin A receptor like type 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGA... | GCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGA... |
Task1_train_17771 | Given this context: Chromosome 12, gene ACVRL1 (activin A receptor like type 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAG... | CAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAG... |
Task1_train_17772 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCT... | CTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCT... |
Task1_train_17773 | A variant affecting Chromosome 12, within the gene ACVRL1 (activin A receptor like type 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | GGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAG... | GGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAG... |
Task1_train_17774 | Assess the clinical impact of this variant on gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCC... | GAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCC... |
Task1_train_17775 | A variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | CGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCC... | CGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCC... |
Task1_train_17776 | A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTG... | GCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTG... |
Task1_train_17777 | Consider a variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1). Determine its clinical classification and disease relevance. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGA... | TCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGA... |
Task1_train_17778 | This genomic variant is located on Chromosome 12, within the ACVRL1 (activin A receptor like type 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGG... | TCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGG... |
Task1_train_17779 | The gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGG... | ACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGG... |
Task1_train_17780 | An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | CAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGG... | CAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGG... |
Task1_train_17781 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... |
Task1_train_17782 | The variant affects gene ACVRL1 (activin A receptor like type 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary hemorrhagic telangiectasia | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... |
Task1_train_17783 | With a mutation on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiovascular phenotype | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... | ACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCA... |
Task1_train_17784 | A sequence alteration has been identified in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAAC... | GGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAAC... |
Task1_train_17785 | An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | GGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAAC... | GGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAAC... |
Task1_train_17786 | A genomic change on Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGC... | AGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGC... |
Task1_train_17787 | This mutation is located in gene ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | CTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGG... | CTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGG... |
Task1_train_17788 | A variant was discovered on Chromosome 12, affecting ACVRL1 (activin A receptor like type 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCC... | AACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCC... |
Task1_train_17789 | Here’s a variant in ACVRL1 (activin A receptor like type 1) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiovascular phenotype | ACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCT... | ACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCT... |
Task1_train_17790 | An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCT... | ACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCT... |
Task1_train_17791 | This variant lies on Chromosome 12 and affects the gene ACVRL1 (activin A receptor like type 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | GGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTG... | GGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTG... |
Task1_train_17792 | A variant affecting Chromosome 12, within the gene ACVRL1 (activin A receptor like type 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGG... | TGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGG... |
Task1_train_17793 | The following genetic variant occurs in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | CTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCC... | CTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCC... |
Task1_train_17794 | This sequence change occurs on Chromosome 12, altering ACVRL1 (activin A receptor like type 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCC... | CTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCC... |
Task1_train_17795 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGAC... | AGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGAC... |
Task1_train_17796 | Assess the clinical impact of this variant on gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCA... | CTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCA... |
Task1_train_17797 | A variant found in Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCG... | CCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCG... |
Task1_train_17798 | A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAG... | CCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAG... |
Task1_train_17799 | A sequence alteration has been identified in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCT... | TGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCT... |
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