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_20300 | This alteration in GLRX5 (glutaredoxin 5) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spasticity-ataxia-gait anomalies syndrome | AAAGACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGG... | AAAGACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGG... |
Task1_train_20301 | Here’s a variant in GLRX5 (glutaredoxin 5) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sideroblastic anemia 3 | GACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGT... | GACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGT... |
Task1_train_20302 | The variant affects gene GLRX5 (glutaredoxin 5), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Sideroblastic anemia 3 | ATTATCATGGAAAGCTTCACACAATATATTATTCATTGAAACAAAACAGGTCGTTCATGCACATAAATGATTCATTTGTATAAAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGA... | ATTATCATGGAAAGCTTCACACAATATATTATTCATTGAAACAAAACAGGTCGTTCATGCACATAAATGATTCATTTGTATAAAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGA... |
Task1_train_20303 | Chromosome 14 houses a mutation in gene GLRX5 (glutaredoxin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Sideroblastic anemia 3 | AAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACC... | AAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACC... |
Task1_train_20304 | Consider a variant on Chromosome 14 in gene GLRX5 (glutaredoxin 5). Determine its clinical classification and disease relevance. | Pathogenic; Sideroblastic anemia 3 | TTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTG... | TTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTG... |
Task1_train_20305 | Gene AK7 (adenylate kinase 7) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spermatogenic failure 27 | AAATGGAAAGAAGGAAGGAAAGAAGGGAGAAAGGAAGGAAGAAAGGAGGGATGGAGGGAGGGAGGCAGGCCCAATGCACACATCTTTGGGTGCCTGATTAATCTTCTTAACATAAATTCCTAAAGTTTGCTGGGTCAAACTAGACATGGTTTGAGTTTTGATACATATTTAAAAACTGCCCTCCAGCAATGGTAAACCAGTTTATGTATCATCTAACAGGTGGCTATTTCCCTACACCTTCTCTAAACCTGCTTTCTCAATTTTACTCGCACATGTCAGGCTGATAAAAACTGTTCTCATTGTTTTAATATTCATTTCTC... | AAATGGAAAGAAGGAAGGAAAGAAGGGAGAAAGGAAGGAAGAAAGGAGGGATGGAGGGAGGGAGGCAGGCCCAATGCACACATCTTTGGGTGCCTGATTAATCTTCTTAACATAAATTCCTAAAGTTTGCTGGGTCAAACTAGACATGGTTTGAGTTTTGATACATATTTAAAAACTGCCCTCCAGCAATGGTAAACCAGTTTATGTATCATCTAACAGGTGGCTATTTCCCTACACCTTCTCTAAACCTGCTTTCTCAATTTTACTCGCACATGTCAGGCTGATAAAAACTGTTCTCATTGTTTTAATATTCATTTCTC... |
Task1_train_20306 | An alteration has been detected in VRK1 (VRK serine/threonine kinase 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pontocerebellar hypoplasia type 1A | ATCTCTGCTCTTTCTAGCCATTTCTTTTTAGATATTTCTAGGCTAAGAACAAAGAAAACGCAGCTAACAACCTGAACAATAAGGGTTCCATTAATTGAAATAGTCTGGACTTGTACAGTATAATAAAATACAACTTATATCACTTTGTAGGTGACTAAAACATGCTGCCTTTGTTTATATGGAAATATTTTTGCAGCTCTGTTATCCTTCAGACATATGCTTTGGATGGGATTATTTTTCCAGTGTTAGATGTATGTGCTAGATCTAGCCACATATTTTTACTTCAGTTTCCTCTTGTGCCCAGATGCATGCATTTGTGA... | ATCTCTGCTCTTTCTAGCCATTTCTTTTTAGATATTTCTAGGCTAAGAACAAAGAAAACGCAGCTAACAACCTGAACAATAAGGGTTCCATTAATTGAAATAGTCTGGACTTGTACAGTATAATAAAATACAACTTATATCACTTTGTAGGTGACTAAAACATGCTGCCTTTGTTTATATGGAAATATTTTTGCAGCTCTGTTATCCTTCAGACATATGCTTTGGATGGGATTATTTTTCCAGTGTTAGATGTATGTGCTAGATCTAGCCACATATTTTTACTTCAGTTTCCTCTTGTGCCCAGATGCATGCATTTGTGA... |
Task1_train_20307 | Here’s a variant in BCL11B (BCL11 transcription factor B) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined immunodeficiency | ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCAT... | ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCAT... |
Task1_train_20308 | Consider a variant on Chromosome 14 in gene BCL11B (BCL11 transcription factor B). Determine its clinical classification and disease relevance. | Pathogenic; Immunodeficiency 49 | ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCAT... | ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCAT... |
Task1_train_20309 | This genomic variant is located on Chromosome 14, within the CCNK (cyclin K) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual developmental disorder with hypertelorism and distinctive facies | ACCAGAACAACAGACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAATTCCCAAGATATGTAAGTGTTTGAATTTTATTGTAATTCTCTGTCATATGTTATTATTTCCACACAGTTTGGTGGACTAATTATAAGCTCTATTTTTCTCATATTTTCCAGAAAGTATTTATTTTTATATGGTATATACTGCATATAAACAAAATCAAGTTTGAACTTTTTTTATTCCAATTAGCCATGTTCAAATCTTTTCACTTAGGCCAATATGGACCATAGTCATATTGCGCT... | ACCAGAACAACAGACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAATTCCCAAGATATGTAAGTGTTTGAATTTTATTGTAATTCTCTGTCATATGTTATTATTTCCACACAGTTTGGTGGACTAATTATAAGCTCTATTTTTCTCATATTTTCCAGAAAGTATTTATTTTTATATGGTATATACTGCATATAAACAAAATCAAGTTTGAACTTTTTTTATTCCAATTAGCCATGTTCAAATCTTTTCACTTAGGCCAATATGGACCATAGTCATATTGCGCT... |
Task1_train_20310 | This alteration in EML1 (EMAP like 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Band heterotopia of brain | GTAAGCTCAGTCCTAAGGTTTCTTAATCATCACATACCTGTGATAGACTCATGTGGATATTTCATAGACATTGGTTATATACATCCACACTCTGCATTTTTTATGTGTTGTGGAAATAGCATTATATTGTCTTTATTCCTAACCTACATTCTGCGAGCTTTCTGGCAGGACTGATTCTCTTACAAAGAGAGTTGCTAGAATCCCTTTTCATTTAGCTGTCAACTCCAGTCTCCTGCCCCTCTTTTCAAGAATGTCAATCGTTTGGGTGCTTTTAGATTCTTTGGTTGTGGTAGCCACACAGCCCCTGATGAGCTTATATT... | GTAAGCTCAGTCCTAAGGTTTCTTAATCATCACATACCTGTGATAGACTCATGTGGATATTTCATAGACATTGGTTATATACATCCACACTCTGCATTTTTTATGTGTTGTGGAAATAGCATTATATTGTCTTTATTCCTAACCTACATTCTGCGAGCTTTCTGGCAGGACTGATTCTCTTACAAAGAGAGTTGCTAGAATCCCTTTTCATTTAGCTGTCAACTCCAGTCTCCTGCCCCTCTTTTCAAGAATGTCAATCGTTTGGGTGCTTTTAGATTCTTTGGTTGTGGTAGCCACACAGCCCCTGATGAGCTTATATT... |
Task1_train_20311 | An alteration has been detected in EML1 (EMAP like 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAA... | TCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAA... |
Task1_train_20312 | Given this variant in gene YY1 (YY1 transcription factor) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Gabriele de Vries syndrome | TAATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCC... | TAATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCC... |
Task1_train_20313 | A variant affecting Chromosome 14, within the gene YY1 (YY1 transcription factor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Gabriele de Vries syndrome | AATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCC... | AATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCC... |
Task1_train_20314 | Mutation context: Chromosome 14, Gene YY1 (YY1 transcription factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGC... | AGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGC... |
Task1_train_20315 | This mutation occurs in YY1 (YY1 transcription factor) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | AAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGT... | AAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGT... |
Task1_train_20316 | This variant affects the gene YY1 (YY1 transcription factor) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTT... | TGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTT... |
Task1_train_20317 | A mutation found in YY1 (YY1 transcription factor) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Gabriele de Vries syndrome | GTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTG... | GTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTG... |
Task1_train_20318 | A mutation on Chromosome 14 affecting WARS1 (tryptophanyl-tRNA synthetase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ATGCTGTGGCTGGGTGGACAATGACAGCAGCAGCTGTCACTGACTCCATTTGTCACCCCTCATTGCACTTGCGTCACAGGTGCAGTAGAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACC... | ATGCTGTGGCTGGGTGGACAATGACAGCAGCAGCTGTCACTGACTCCATTTGTCACCCCTCATTGCACTTGCGTCACAGGTGCAGTAGAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACC... |
Task1_train_20319 | Here is a mutation in WARS1 (tryptophanyl-tRNA synthetase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | GAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCC... | GAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCC... |
Task1_train_20320 | A variant on Chromosome 14 in gene WARS1 (tryptophanyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | AGCACTGTGCTACTATTTTGATTTTTTTAATTTGAGAGATGGGGCCTCACTGTGCCACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGC... | AGCACTGTGCTACTATTTTGATTTTTTTAATTTGAGAGATGGGGCCTCACTGTGCCACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGC... |
Task1_train_20321 | A variant found in Chromosome 14 affects WARS1 (tryptophanyl-tRNA synthetase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neuronopathy, distal hereditary motor, type 9 | ACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCA... | ACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCA... |
Task1_train_20322 | Assess the clinical impact of this variant on gene WARS1 (tryptophanyl-tRNA synthetase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; See cases | GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCA... | GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCA... |
Task1_train_20323 | This variant affects the gene WARS1 (tryptophanyl-tRNA synthetase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neuronopathy, distal hereditary motor, type 9 | GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCA... | GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCA... |
Task1_train_20324 | A variant has been detected on Chromosome 14 in WARS1 (tryptophanyl-tRNA synthetase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neuronopathy, distal hereditary motor, type 9 | TATACAAAAATTAACTCAAAAAGGATCAGAAACTGAAATGTAAGAGCTAAAACCACAAAACTCTGAGAAGAAACCATAGGTGTAAATCTTCACAACCTTCGATTAGTCAGTGGTTTCTCAGATATGACACCAAAAACACAATCAATCAAAGATAAAATAAACTGGACTTCATCAAAATTAAAAACTTTCATACTTCAAAGGACTATCAGTAGAGTGAAGAGACAACCTATATAATGGGAGCAAATATTTGCAAGTAATATTTGAATAAGAAACTAGTATCCAGAATATAGAAAGAACTATTATAACTAACAATAAAAAGA... | TATACAAAAATTAACTCAAAAAGGATCAGAAACTGAAATGTAAGAGCTAAAACCACAAAACTCTGAGAAGAAACCATAGGTGTAAATCTTCACAACCTTCGATTAGTCAGTGGTTTCTCAGATATGACACCAAAAACACAATCAATCAAAGATAAAATAAACTGGACTTCATCAAAATTAAAAACTTTCATACTTCAAAGGACTATCAGTAGAGTGAAGAGACAACCTATATAATGGGAGCAAATATTTGCAAGTAATATTTGAATAAGAAACTAGTATCCAGAATATAGAAAGAACTATTATAACTAACAATAAAAAGA... |
Task1_train_20325 | Consider this mutation in WARS1 (tryptophanyl-tRNA synthetase 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | CTCCTGGAAGTTAAAAATGATAGCAGAAATGGAAAACAATAGGAGGGTTAGAAAATCAGAGAAACAGTCTCTGAATTAAAAAAAAAAGTCTGTGAAGAGAGAAAACAGAAGAGATCAAAGAAATCATGATTTCTGAGAATTAACGGCCATGAGTTTCTAGTCTAAAAGGCAGGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGATCAGCCTGGCTAATATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGGC... | CTCCTGGAAGTTAAAAATGATAGCAGAAATGGAAAACAATAGGAGGGTTAGAAAATCAGAGAAACAGTCTCTGAATTAAAAAAAAAAGTCTGTGAAGAGAGAAAACAGAAGAGATCAAAGAAATCATGATTTCTGAGAATTAACGGCCATGAGTTTCTAGTCTAAAAGGCAGGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGATCAGCCTGGCTAATATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGGC... |
Task1_train_20326 | A variant was discovered in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Spinal muscular atrophy | CGGCCTAATTTTTGTATCTTTAGTAGAGATGTGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCTACTCACCTTAGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCATGCCTGGCGTATGAAGTATTGTGTATAAAGTACTGGCAAGGGAATTAGAAAATTCAAATTTTATTAATTACCTTGAAGGCATTAATTTAACCAACTTTGAGTGCCTGTTGTGTGCAAGGTGTGGCAGTAGGTATATAGAGTAGTACACAAAGAAATAAAACCTGCTTCCTGTTCCCAAGAAGCTTGTC... | CGGCCTAATTTTTGTATCTTTAGTAGAGATGTGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCTACTCACCTTAGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCATGCCTGGCGTATGAAGTATTGTGTATAAAGTACTGGCAAGGGAATTAGAAAATTCAAATTTTATTAATTACCTTGAAGGCATTAATTTAACCAACTTTGAGTGCCTGTTGTGTGCAAGGTGTGGCAGTAGGTATATAGAGTAGTACACAAAGAAATAAAACCTGCTTCCTGTTCCCAAGAAGCTTGTC... |
Task1_train_20327 | Given a variant located on Chromosome 14 and affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTA... | CTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTA... |
Task1_train_20328 | Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAG... | TTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAG... |
Task1_train_20329 | Assess the clinical impact of this variant on gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... |
Task1_train_20330 | Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... |
Task1_train_20331 | This variant affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 13 | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... |
Task1_train_20332 | This genomic variant is located on Chromosome 14, within the DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... | TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCC... |
Task1_train_20333 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCC... | CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCC... |
Task1_train_20334 | This variant lies on Chromosome 14 and affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCC... | CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCC... |
Task1_train_20335 | A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | AGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTAC... | AGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTAC... |
Task1_train_20336 | Given a variant located on Chromosome 14 and affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | CCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGT... | CCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGT... |
Task1_train_20337 | A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20338 | The variant affects gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal dominant 13 | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20339 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20340 | Consider this mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20341 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... | GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20342 | This sequence variant lies in DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGGTGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAA... | TGGTGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAA... |
Task1_train_20343 | Here is a genetic alteration in DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAAT... | TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAAT... |
Task1_train_20344 | This sequence change occurs on Chromosome 14, altering DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAAT... | TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAAT... |
Task1_train_20345 | The variant affects gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | AAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGC... | AAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGC... |
Task1_train_20346 | Given this context: Chromosome 14, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | CCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCA... | CCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCA... |
Task1_train_20347 | Chromosome 14 houses a mutation in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | ACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCC... | ACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCC... |
Task1_train_20348 | Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | CGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTG... | CGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTG... |
Task1_train_20349 | Assess the clinical impact of this variant on gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 13 | ACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... | ACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... |
Task1_train_20350 | This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, autosomal dominant 13 | TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTG... | TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTG... |
Task1_train_20351 | This mutation is located in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTG... | TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTG... |
Task1_train_20352 | A variant on Chromosome 14 in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... |
Task1_train_20353 | A mutation on Chromosome 14 affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... |
Task1_train_20354 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... |
Task1_train_20355 | A variant was discovered on Chromosome 14, affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 13 | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... | CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAAT... |
Task1_train_20356 | Here is a mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG... | GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG... |
Task1_train_20357 | Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; DYNC1H1-related neurodevelopmental disorders | GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG... | GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG... |
Task1_train_20358 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTT... | CAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTT... |
Task1_train_20359 | Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Abnormal cerebral morphology | CCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAG... | CCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAG... |
Task1_train_20360 | Chromosome 14 houses a mutation in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTG... | AGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTG... |
Task1_train_20361 | A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, autosomal dominant 13 | TGCGCCCAACATACCCATTATCGATTATGAGGTGAGCATGCAGCTACCACCCGTGTTTCTGATTCTCGCCTTGTTGATTTAACTCATCCTGGAACAAGCTGACCATGGACCTTGGCTTCGTCTTTTCATTTTATTCCATTTCATAGAAGGACTTTATCCTTTTAGTTCCATGTGTTAGCAAAGAGTGCAGATTAACCTGACCAATTACTTCCTTGTTCTGAAAGTTCAAGTTTGTGTTCAGGTAAACAAACCTCGTGAGGAGGCACCTTGGTTGCAGCCGGACTCACACTTCCATCTCCGTGTGTAGGTGTCCATCAGCG... | TGCGCCCAACATACCCATTATCGATTATGAGGTGAGCATGCAGCTACCACCCGTGTTTCTGATTCTCGCCTTGTTGATTTAACTCATCCTGGAACAAGCTGACCATGGACCTTGGCTTCGTCTTTTCATTTTATTCCATTTCATAGAAGGACTTTATCCTTTTAGTTCCATGTGTTAGCAAAGAGTGCAGATTAACCTGACCAATTACTTCCTTGTTCTGAAAGTTCAAGTTTGTGTTCAGGTAAACAAACCTCGTGAGGAGGCACCTTGGTTGCAGCCGGACTCACACTTCCATCTCCGTGTGTAGGTGTCCATCAGCG... |
Task1_train_20362 | This variant affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 13 | TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGT... | TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGT... |
Task1_train_20363 | A mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGT... | TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGT... |
Task1_train_20364 | A mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | ATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGC... | ATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGC... |
Task1_train_20365 | Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... |
Task1_train_20366 | Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability, autosomal dominant 13 | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... |
Task1_train_20367 | This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... | TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCT... |
Task1_train_20368 | A mutation found in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | TGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAA... | TGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAA... |
Task1_train_20369 | This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTG... | ACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTG... |
Task1_train_20370 | A variant affecting Chromosome 14, within the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTC... | ACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTC... |
Task1_train_20371 | Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spinal muscular atrophy with lower extremity predominance | ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCC... | ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCC... |
Task1_train_20372 | The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCC... | ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCC... |
Task1_train_20373 | This is a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 13 | CAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCT... | CAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCT... |
Task1_train_20374 | This variant lies on Chromosome 14 and affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 13 | GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTAC... | GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTAC... |
Task1_train_20375 | Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2O | GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTAC... | GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTAC... |
Task1_train_20376 | This alteration occurs within gene AMN (amnion associated transmembrane protein) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Imerslund-Grasbeck syndrome type 2 | CGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCATTCATCACCCATCCACCCTCTATCACTCACCATCCACCCCGTCAACCATTTACCATTCATCTGCCATGCGTCCATATGCCGTACACCATGCACCATCAATGTTGCTGTCCATCAGCTGTCCCCTACTCACCATCCACTACTCTCCACCATCATCCACAATCCACCCTCCTATACCATCCACATA... | CGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCATTCATCACCCATCCACCCTCTATCACTCACCATCCACCCCGTCAACCATTTACCATTCATCTGCCATGCGTCCATATGCCGTACACCATGCACCATCAATGTTGCTGTCCATCAGCTGTCCCCTACTCACCATCCACTACTCTCCACCATCATCCACAATCCACCCTCCTATACCATCCACATA... |
Task1_train_20377 | This sequence variant lies in MARK3 (microtubule affinity regulating kinase 3) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Visual impairment and progressive phthisis bulbi | ACTGTGTGTGTTAGATGAAACTGCAGACTTCCAGCCACTCTATCTTACCATGTCTGTTAACAGTTAATTTGCTCTGATGAATTTGCCCATCTTGGAGAAGGGGGCTCTGCTGACTGTTTTTTATCTTGGAGTAAATGTCCTTTGATTAGGAAGGTTCTAGACTATATTGTTAAAACAACATTGGAAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGTATCGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGACAAAACTCTCTCTACTAAAAATACAAAATTAG... | ACTGTGTGTGTTAGATGAAACTGCAGACTTCCAGCCACTCTATCTTACCATGTCTGTTAACAGTTAATTTGCTCTGATGAATTTGCCCATCTTGGAGAAGGGGGCTCTGCTGACTGTTTTTTATCTTGGAGTAAATGTCCTTTGATTAGGAAGGTTCTAGACTATATTGTTAAAACAACATTGGAAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGTATCGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGACAAAACTCTCTCTACTAAAAATACAAAATTAG... |
Task1_train_20378 | A variant was discovered in gene KIF26A (kinesin family member 26A), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCC... | GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCC... |
Task1_train_20379 | Given this variant in gene KIF26A (kinesin family member 26A) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cortical dysplasia, complex, with other brain malformations 11 | GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCC... | GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCC... |
Task1_train_20380 | The gene KIF26A (kinesin family member 26A) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cortical dysplasia, complex, with other brain malformations 11 | TCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTG... | TCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTG... |
Task1_train_20381 | This mutation occurs in KIF26A (kinesin family member 26A) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGG... | GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGG... |
Task1_train_20382 | Consider this mutation in KIF26A (kinesin family member 26A) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Cortical dysplasia, complex, with other brain malformations 11 | GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGG... | GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGG... |
Task1_train_20383 | This sequence change occurs on Chromosome 14, altering KIF26A (kinesin family member 26A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cortical dysplasia, complex, with other brain malformations 11 | TGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGA... | TGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGA... |
Task1_train_20384 | The gene INF2 (inverted formin 2) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Focal segmental glomerulosclerosis 5 | AGGGGCGTTGGGGACCTGAGGCTGCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGG... | AGGGGCGTTGGGGACCTGAGGCTGCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGG... |
Task1_train_20385 | A variant on Chromosome 14 in gene INF2 (inverted formin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Focal segmental glomerulosclerosis 5 | GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGA... | GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGA... |
Task1_train_20386 | Gene INF2 (inverted formin 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGA... | GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGA... |
Task1_train_20387 | A variant has been detected on Chromosome 14 in INF2 (inverted formin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Focal segmental glomerulosclerosis 5 | TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCA... | TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCA... |
Task1_train_20388 | The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCA... | TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCA... |
Task1_train_20389 | Chromosome 14 houses a mutation in gene INF2 (inverted formin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGG... | GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGG... |
Task1_train_20390 | This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Focal segmental glomerulosclerosis 5 | GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGG... | GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGG... |
Task1_train_20391 | A variant found in Chromosome 14 affects INF2 (inverted formin 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Focal segmental glomerulosclerosis 5 | GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGA... | GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGA... |
Task1_train_20392 | A change on Chromosome 14 affects gene INF2 (inverted formin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGA... | GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGA... |
Task1_train_20393 | A change on Chromosome 14 affects gene INF2 (inverted formin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Focal segmental glomerulosclerosis 5 | ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAG... | ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAG... |
Task1_train_20394 | The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAG... | ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAG... |
Task1_train_20395 | This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Focal segmental glomerulosclerosis 5 | AGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGC... | AGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGC... |
Task1_train_20396 | The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Focal segmental glomerulosclerosis 5 | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... |
Task1_train_20397 | A mutation in INF2 (inverted formin 2), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... |
Task1_train_20398 | The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... | AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTG... |
Task1_train_20399 | This variant lies on Chromosome 14 and affects the gene INF2 (inverted formin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGA... | GGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGA... |
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