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_25500 | Here is a genetic alteration in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Camptomelic dysplasia | AAAACTAGTTTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACAT... | AAAACTAGTTTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACAT... |
Task1_train_25501 | Consider this mutation in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTG... | TTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTG... |
Task1_train_25502 | This sequence variant lies in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Camptomelic dysplasia | GGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGA... | GGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGA... |
Task1_train_25503 | The following genetic variant occurs in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; SOX9-related disorder | GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCG... | GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCG... |
Task1_train_25504 | Here is a mutation in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCG... | GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCG... |
Task1_train_25505 | Chromosome 17 houses a mutation in gene LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Camptomelic dysplasia | CAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGT... | CAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGT... |
Task1_train_25506 | Given this variant in gene SOX9 (SRY-box transcription factor 9) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Camptomelic dysplasia | ACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTG... | ACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTG... |
Task1_train_25507 | Gene SOX9 (SRY-box transcription factor 9) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Camptomelic dysplasia | AATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGAC... | AATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGAC... |
Task1_train_25508 | Here is a mutation in SOX9 (SRY-box transcription factor 9) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; ACAMPOMELIC CAMPOMELIC DYSPLASIA | TTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTG... | TTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTG... |
Task1_train_25509 | A variant on Chromosome 17 in gene SOX9 (SRY-box transcription factor 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGC... | GTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGC... |
Task1_train_25510 | Consider this mutation in SOX9 (SRY-box transcription factor 9) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Camptomelic dysplasia | CAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGAC... | CAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGAC... |
Task1_train_25511 | This alteration occurs within gene SOX9 (SRY-box transcription factor 9) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Camptomelic dysplasia | AACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTC... | AACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTC... |
Task1_train_25512 | A variant has been detected on Chromosome 17 in SOX9 (SRY-box transcription factor 9). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Camptomelic dysplasia | CTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCA... | CTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCA... |
Task1_train_25513 | A variant was discovered in gene DNAI2 (dynein axonemal intermediate chain 2), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary ciliary dyskinesia | ACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCT... | ACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCT... |
Task1_train_25514 | Located on Chromosome 17, this mutation impacts KIF19 (kinesin family member 19). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Non-immune hydrops fetalis | GCCAAGGAGGCGAGTTTTGTGTGGCCAGCCTGGAGCCGCTGAGAGGAAGCTCACCGCCTGAGGGGCAGGAGGGGCGGGGACAGAAGCCAGGGAGCTGCTCCCCACTCGGCTGAGGCTGGGACAGACAGGAGAATCCTGAGTGGCAGCAAGGAGGGGACTCACACCTGCCCCAATGCCCCCACCACGCTGACCCTGGGAGAGTAACCAGGCAACACTGCCTCTCCATTTACACAGAGACCCTGACCTCCAGAGAGCCGAGGCCCACGCCAGGCCTCTCAGCACACGGAGCCCAGCCCACTCCAGCCTGCCCTTTCCCAACT... | GCCAAGGAGGCGAGTTTTGTGTGGCCAGCCTGGAGCCGCTGAGAGGAAGCTCACCGCCTGAGGGGCAGGAGGGGCGGGGACAGAAGCCAGGGAGCTGCTCCCCACTCGGCTGAGGCTGGGACAGACAGGAGAATCCTGAGTGGCAGCAAGGAGGGGACTCACACCTGCCCCAATGCCCCCACCACGCTGACCCTGGGAGAGTAACCAGGCAACACTGCCTCTCCATTTACACAGAGACCCTGACCTCCAGAGAGCCGAGGCCCACGCCAGGCCTCTCAGCACACGGAGCCCAGCCCACTCCAGCCTGCCCTTTCCCAACT... |
Task1_train_25515 | Here’s a variant in KIF19 (kinesin family member 19) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TCAATGTGGGAGTGGGGTCTGGGAGGATGTAGTAATCTAGGGGGTCTTCCTGGAGGAAGCAGTTGGACAGGAAGTGGGAGCACTGAGTTGGGAAGAAAAGGAGGGGAGGGGCCCAGGTGGGCCCAGGCTTTGCTAGCTGAACTTGCCGCCTCCTCTACCTTGCCCACCCTCACCCATCGGCAGCTGAGGTCCAGCTGCACAGCGGGCAGGGTGAGAAGGCTGGCATGGGACAGCTTCGGGAGCAGCTCGCCAGCGCCTTCCAGGAGCAGATGGATGTGCGGAGGCGCCTGCTGGAGCTGGAGAACCGCGCCATGGAGGTC... | TCAATGTGGGAGTGGGGTCTGGGAGGATGTAGTAATCTAGGGGGTCTTCCTGGAGGAAGCAGTTGGACAGGAAGTGGGAGCACTGAGTTGGGAAGAAAAGGAGGGGAGGGGCCCAGGTGGGCCCAGGCTTTGCTAGCTGAACTTGCCGCCTCCTCTACCTTGCCCACCCTCACCCATCGGCAGCTGAGGTCCAGCTGCACAGCGGGCAGGGTGAGAAGGCTGGCATGGGACAGCTTCGGGAGCAGCTCGCCAGCGCCTTCCAGGAGCAGATGGATGTGCGGAGGCGCCTGCTGGAGCTGGAGAACCGCGCCATGGAGGTC... |
Task1_train_25516 | This sequence variant lies in FDXR (ferredoxin reductase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | AGCTGGAAGGGGAAGAAGCGGGACTCGCGGCGGGGGAAGGGGTCTGGGCGCCGAGGCGAGTGCGCAGCAGGTGCCCAGCAGACCTAGGGAAACTGGGGCACTGGGCTGGGGAGCCGCACAGCCCCCTTTCACCTTCTCGACTCCTTTCCAACCCCTCGCTCTGGTGGATCCCAGCCCCGGCCCCCACTCCCGGCCCTGTTCCCCGCTCTCCGCCCCGGCGGCTTCCAGCAGCAACAGTTTGGGTCCGCGGCAGCCCAGACTCCCCTGGTCCCGCGGTGCTGCCGCGCCAAGCGAAGGAGGAGGAGGGCTCGGCGACCCTG... | AGCTGGAAGGGGAAGAAGCGGGACTCGCGGCGGGGGAAGGGGTCTGGGCGCCGAGGCGAGTGCGCAGCAGGTGCCCAGCAGACCTAGGGAAACTGGGGCACTGGGCTGGGGAGCCGCACAGCCCCCTTTCACCTTCTCGACTCCTTTCCAACCCCTCGCTCTGGTGGATCCCAGCCCCGGCCCCCACTCCCGGCCCTGTTCCCCGCTCTCCGCCCCGGCGGCTTCCAGCAGCAACAGTTTGGGTCCGCGGCAGCCCAGACTCCCCTGGTCCCGCGGTGCTGCCGCGCCAAGCGAAGGAGGAGGAGGGCTCGGCGACCCTG... |
Task1_train_25517 | An alteration has been detected in FDXR (ferredoxin reductase) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Auditory neuropathy-optic atrophy syndrome | ATCCACCAGCTTCTCCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCC... | ATCCACCAGCTTCTCCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCC... |
Task1_train_25518 | The gene FDXR (ferredoxin reductase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Auditory neuropathy-optic atrophy syndrome | GGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGC... | GGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGC... |
Task1_train_25519 | The gene USH1G (USH1 protein network component sans) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Usher syndrome type 1G | CCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATT... | CCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATT... |
Task1_train_25520 | Given a variant located on Chromosome 17 and affecting USH1G (USH1 protein network component sans), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Usher syndrome type 1G | ATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCC... | ATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCC... |
Task1_train_25521 | The following genetic variant occurs in HID1 (HID1 domain containing) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy 105 with hypopituitarism | TCTAGAACGTCAAGCTGCCATGTCACTAGAGGTGTATTTTGGGACCCAACCCTGGGGGCACACCCAGACTGAAGTTCCATGCTGATCTGAACACTTCCTTGTCTTGTGTCATTTTCCCTCACTAGGCTGAGGGCTCCACAGGGCAGGGACCAGGGCTGTCTTGGTCACAAGTGTGTTCTCGGAACCAGCTCAGTTAAGATTTGTGAGATGGAGCCAGAGAGTGAACCAGGAGGGGAAGGGACAGTCCTGACCCCAAAGCTCACAGCCCAGCTAGAGGCCTCTACCACCGCACACTACCCACCCTGCAGTCTAAACCAGAA... | TCTAGAACGTCAAGCTGCCATGTCACTAGAGGTGTATTTTGGGACCCAACCCTGGGGGCACACCCAGACTGAAGTTCCATGCTGATCTGAACACTTCCTTGTCTTGTGTCATTTTCCCTCACTAGGCTGAGGGCTCCACAGGGCAGGGACCAGGGCTGTCTTGGTCACAAGTGTGTTCTCGGAACCAGCTCAGTTAAGATTTGTGAGATGGAGCCAGAGAGTGAACCAGGAGGGGAAGGGACAGTCCTGACCCCAAAGCTCACAGCCCAGCTAGAGGCCTCTACCACCGCACACTACCCACCCTGCAGTCTAAACCAGAA... |
Task1_train_25522 | A sequence alteration has been identified in HID1 (HID1 domain containing) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy 105 with hypopituitarism | GGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCTCAGAGATGGGAATGGAGGCCTGTGGAGAAGGTGGGCTTCCCCTCAGGGAGCAGAGCCCACGCTCAGCCAACCAGCTCCCAAGCCACA... | GGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCTCAGAGATGGGAATGGAGGCCTGTGGAGAAGGTGGGCTTCCCCTCAGGGAGCAGAGCCCACGCTCAGCCAACCAGCTCCCAAGCCACA... |
Task1_train_25523 | This variant affects the gene MIF4GD-DT, SLC25A19 (MIF4GD divergent transcript| solute carrier family 25 member 19) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | TCGATCTTGCGCGTGGCCCCGCACCCAGCCCTCCCCGGAGCTCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGC... | TCGATCTTGCGCGTGGCCCCGCACCCAGCCCTCCCCGGAGCTCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGC... |
Task1_train_25524 | Here is a mutation in MIF4GD-DT, SLC25A19 (MIF4GD divergent transcript| solute carrier family 25 member 19) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | TCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCT... | TCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCT... |
Task1_train_25525 | This mutation occurs in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | ACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTGACTACTGAGACTACAACATGACTTAGCACGGGGCTTCTCTTAATGGCCAACTCTCCTAGTG... | ACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTGACTACTGAGACTACAACATGACTTAGCACGGGGCTTCTCTTAATGGCCAACTCTCCTAGTG... |
Task1_train_25526 | Gene SLC25A19 (solute carrier family 25 member 19), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | AGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTC... | AGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTC... |
Task1_train_25527 | The gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | CCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC... | CCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC... |
Task1_train_25528 | A variant was discovered in gene SLC25A19 (solute carrier family 25 member 19), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Amish lethal microcephaly | GTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATT... | GTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATT... |
Task1_train_25529 | Gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | CCCATTCTTTGTGGAAACCAAAGACACTCGCAATTGGCCGGGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGACAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAA... | CCCATTCTTTGTGGAAACCAAAGACACTCGCAATTGGCCGGGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGACAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAA... |
Task1_train_25530 | Here is a genetic alteration in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | CAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGAT... | CAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGAT... |
Task1_train_25531 | Gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | CTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAG... | CTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAG... |
Task1_train_25532 | The following genetic variant occurs in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis | TTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGG... | TTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGG... |
Task1_train_25533 | Consider this mutation in LOC112533671, TSEN54 (Sharpr-MPRA regulatory region 12010| tRNA splicing endonuclease subunit 54) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Olivopontocerebellar hypoplasia | AGGCCGGGCCAGCAGCCTGTTCTCCACAGCCCGAGGCTCCGACACCCACAGACAACTGGCGGGCCAGGAGGTGGGGCCGGGAGGGTCAGGCACAGGCAGGCGGGCAGGGGTCACTCCCTGTCAAAGGCACCAGCCCCCAGATTCCTCCCTACGGAGGCTTCAAGGCTTCGCTTTAATGGCTGGATGCCCTAGTCCTAGGACTCTTTGTGAACGGAGAGCATGAAGTGCTTCTGGCCCCCCATTTCTGGGGGCTCTGCCTGCTAGAGAGGGAAGCTGCACAGCACCTGTTGCTGACCCGCCCTCGCCCCTTGTGTCGGGTG... | AGGCCGGGCCAGCAGCCTGTTCTCCACAGCCCGAGGCTCCGACACCCACAGACAACTGGCGGGCCAGGAGGTGGGGCCGGGAGGGTCAGGCACAGGCAGGCGGGCAGGGGTCACTCCCTGTCAAAGGCACCAGCCCCCAGATTCCTCCCTACGGAGGCTTCAAGGCTTCGCTTTAATGGCTGGATGCCCTAGTCCTAGGACTCTTTGTGAACGGAGAGCATGAAGTGCTTCTGGCCCCCCATTTCTGGGGGCTCTGCCTGCTAGAGAGGGAAGCTGCACAGCACCTGTTGCTGACCCGCCCTCGCCCCTTGTGTCGGGTG... |
Task1_train_25534 | A variant was discovered on Chromosome 17, affecting ITGB4 (integrin subunit beta 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CACTTGAATTTTGTCTGTTAGAGGGGGTCCTGCTGGTGGCTTGAAATAGACCACGACAGAAATGTTTACACCACAGAAATTGGCAAACGCTACACGTCAAGCACCAGAGACCAGAGCCGTTGTTATTTTTTTATTTAATTCAATGTATATGTAGAAACATGCTCTCACTCTGTCGTCCCGGTGAAATGCAGTGATGCCATCGTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTCCCACCTTAGCCTCCCATGTAGCTAGGACCACAGGCATGCACCACCATGCCTGGCTAATTAAAAACAATTTTTTTGT... | CACTTGAATTTTGTCTGTTAGAGGGGGTCCTGCTGGTGGCTTGAAATAGACCACGACAGAAATGTTTACACCACAGAAATTGGCAAACGCTACACGTCAAGCACCAGAGACCAGAGCCGTTGTTATTTTTTTATTTAATTCAATGTATATGTAGAAACATGCTCTCACTCTGTCGTCCCGGTGAAATGCAGTGATGCCATCGTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTCCCACCTTAGCCTCCCATGTAGCTAGGACCACAGGCATGCACCACCATGCCTGGCTAATTAAAAACAATTTTTTTGT... |
Task1_train_25535 | This sequence change occurs on Chromosome 17, altering ITGB4 (integrin subunit beta 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGC... | CTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGC... |
Task1_train_25536 | This alteration occurs within gene ITGB4 (integrin subunit beta 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | GGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCAC... | GGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCAC... |
Task1_train_25537 | This variant affects gene ITGB4 (integrin subunit beta 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | AGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCG... | AGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCG... |
Task1_train_25538 | A variant found in Chromosome 17 affects ITGB4 (integrin subunit beta 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... |
Task1_train_25539 | Here is a mutation in ITGB4 (integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... |
Task1_train_25540 | Gene ITGB4 (integrin subunit beta 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... | CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... |
Task1_train_25541 | A variant on Chromosome 17 in gene ITGB4 (integrin subunit beta 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | GGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCC... | GGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCC... |
Task1_train_25542 | Here is a mutation in ITGB4 (integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGC... | AGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGC... |
Task1_train_25543 | A genetic alteration is present in ITGB4 (integrin subunit beta 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCAT... | CCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCAT... |
Task1_train_25544 | Chromosome 17 houses a mutation in gene ITGB4 (integrin subunit beta 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | GTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAA... | GTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAA... |
Task1_train_25545 | Here is a genetic alteration in ITGB4 (integrin subunit beta 4) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate | TGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGG... | TGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGG... |
Task1_train_25546 | A mutation in ITGB4 (integrin subunit beta 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | GTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACAC... | GTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACAC... |
Task1_train_25547 | The gene ITGB4 (integrin subunit beta 4) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | GGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTC... | GGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTC... |
Task1_train_25548 | Here is a mutation in GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Junctional epidermolysis bullosa | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... |
Task1_train_25549 | Consider a variant on Chromosome 17 in gene GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4). Determine its clinical classification and disease relevance. | Pathogenic; Junctional epidermolysis bullosa with pyloric atresia | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... |
Task1_train_25550 | A variant affecting Chromosome 17, within the gene GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... | CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCA... |
Task1_train_25551 | A genomic change on Chromosome 17 affects GALK1 (galactokinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Deficiency of galactokinase | GGAGAATTGCTTGAACCCTGAAGACGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACG... | GGAGAATTGCTTGAACCCTGAAGACGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACG... |
Task1_train_25552 | Mutation context: Chromosome 17, Gene GALK1 (galactokinase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Deficiency of galactokinase | GCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACA... | GCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACA... |
Task1_train_25553 | The gene H3-3B (H3.3 histone B), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bryant-Li-Bhoj neurodevelopmental syndrome 2 | TGGGTTGAGTGCTCAAGCCAAGTGTGGAAATGCAAGTCACTGCTTCGGCAGATTGCAAGCTGCCCAATATAATCTAAGAGCCTTCTATGCCAGCCTGCAGACTGGAGAAGGTTCACTAGTGTCACCCACTTGGGTTGTCACAGGTAGTAAGCAGAAGCTAACTCATCACCGTAGCCAGGTTTGTGTACTTTGTTTCCAGACACGCTACAGCATAGCACGTTCCAACATCTGATCTTAATCTCATTCTGAAGCACAGTGAGGAATCAAGTGTGCTTGTTCCAGAGCTGATTATGAACTTTCTAGAAAAGCGGGTCATTATA... | TGGGTTGAGTGCTCAAGCCAAGTGTGGAAATGCAAGTCACTGCTTCGGCAGATTGCAAGCTGCCCAATATAATCTAAGAGCCTTCTATGCCAGCCTGCAGACTGGAGAAGGTTCACTAGTGTCACCCACTTGGGTTGTCACAGGTAGTAAGCAGAAGCTAACTCATCACCGTAGCCAGGTTTGTGTACTTTGTTTCCAGACACGCTACAGCATAGCACGTTCCAACATCTGATCTTAATCTCATTCTGAAGCACAGTGAGGAATCAAGTGTGCTTGTTCCAGAGCTGATTATGAACTTTCTAGAAAAGCGGGTCATTATA... |
Task1_train_25554 | With a mutation on Chromosome 17 in gene H3-3B (H3.3 histone B), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder | TGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCC... | TGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCC... |
Task1_train_25555 | Gene H3-3B (H3.3 histone B) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bryant-Li-Bhoj neurodevelopmental syndrome 2 | AGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACA... | AGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACA... |
Task1_train_25556 | Chromosome 17 houses a mutation in gene H3-3B (H3.3 histone B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGAC... | TCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGAC... |
Task1_train_25557 | Given this variant in gene UNC13D (unc-13 homolog D) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 3 | CCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGT... | CCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGT... |
Task1_train_25558 | Gene UNC13D (unc-13 homolog D) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 3 | CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGG... | CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGG... |
Task1_train_25559 | Consider this mutation in UNC13D (unc-13 homolog D) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGG... | CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGG... |
Task1_train_25560 | Mutation context: Chromosome 17, Gene UNC13D (unc-13 homolog D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 3 | TTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGA... | TTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGA... |
Task1_train_25561 | This mutation occurs in WBP2 (WW domain binding protein 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hearing loss, autosomal recessive 107 | TGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTT... | TGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTT... |
Task1_train_25562 | Here’s a variant in WBP2 (WW domain binding protein 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hearing loss, autosomal recessive 107 | TGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCG... | TGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCG... |
Task1_train_25563 | This sequence change occurs on Chromosome 17, altering WBP2 (WW domain binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hearing loss, autosomal recessive 107 | AATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTG... | AATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTG... |
Task1_train_25564 | This mutation is located in gene ACOX1 (acyl-CoA oxidase 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Acyl-CoA oxidase deficiency | CAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAAC... | CAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAAC... |
Task1_train_25565 | This variant lies on Chromosome 17 and affects the gene ACOX1 (acyl-CoA oxidase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Acyl-CoA oxidase deficiency | GCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGT... | GCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGT... |
Task1_train_25566 | A change on Chromosome 17 affects gene ACOX1 (acyl-CoA oxidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Acyl-CoA oxidase deficiency | CCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTACCACAGATGAAAGGACAGTCACGAGATGTTTATGCTCTGGAATTTCTGGCTT... | CCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTACCACAGATGAAAGGACAGTCACGAGATGTTTATGCTCTGGAATTTCTGGCTT... |
Task1_train_25567 | A change on Chromosome 17 affects gene EXOC7 (exocyst complex component 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with seizures and brain atrophy | CATGTCGCCCACCTGCTCCACCCCGTACTTGATGTACTTCTCCGGGTTCTTGGTGAAGGGCACGCTGCCAAACCTGAGGAGGCACTGTGGTCAGGGGACAGGGAGGGCCGACCCCTCCCCAGCTCCACCCTCAGCCTAAGGCACTCCTGATAGTCTTGGAAGGGGTGGCCCTGAGCGATTCCCTGTCTGGCCCCGCCCCAAAGCCCAGGTCGCTGGATCTGCTGCCTAAATCCACCACCCTTCTCCTTTTTCCCTTGAGGAAGAGGAGCTTGAAGAGGCCCACTGGGGCTGTGGGCAGCACAGGCTGGGAGGGGAATGGA... | CATGTCGCCCACCTGCTCCACCCCGTACTTGATGTACTTCTCCGGGTTCTTGGTGAAGGGCACGCTGCCAAACCTGAGGAGGCACTGTGGTCAGGGGACAGGGAGGGCCGACCCCTCCCCAGCTCCACCCTCAGCCTAAGGCACTCCTGATAGTCTTGGAAGGGGTGGCCCTGAGCGATTCCCTGTCTGGCCCCGCCCCAAAGCCCAGGTCGCTGGATCTGCTGCCTAAATCCACCACCCTTCTCCTTTTTCCCTTGAGGAAGAGGAGCTTGAAGAGGCCCACTGGGGCTGTGGGCAGCACAGGCTGGGAGGGGAATGGA... |
Task1_train_25568 | This mutation is located in gene RHBDF2 (rhomboid 5 homolog 2) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TCACCTTGGAGGCGATGCGCTTGCCGCGCCGGGGCCCGGGGACTGGGGCTCGGCCATACTCCTTCCTGGTGGGGATGGTGGCTTTCAGCCTGAATCCCCCACCAAAATACTCCCAGACCCCACCAGGGTGCTCAGAAGGGGCTTGGGGGCCAGGGTGAGGTCTGGGGATGCCCCCAGGCTGGTGGCTGGCCTGGAGGAGGGACTCTGCCCCAGCACTCACAGAGGGATTTGCACCCCATCGGGGGAGACAGGGGAGGCTGAGTGTGGGATCCCTCGGAAGTAGCTGGCAGAGAGTGGGGGGGACTCAAAGACATCATCAG... | TCACCTTGGAGGCGATGCGCTTGCCGCGCCGGGGCCCGGGGACTGGGGCTCGGCCATACTCCTTCCTGGTGGGGATGGTGGCTTTCAGCCTGAATCCCCCACCAAAATACTCCCAGACCCCACCAGGGTGCTCAGAAGGGGCTTGGGGGCCAGGGTGAGGTCTGGGGATGCCCCCAGGCTGGTGGCTGGCCTGGAGGAGGGACTCTGCCCCAGCACTCACAGAGGGATTTGCACCCCATCGGGGGAGACAGGGGAGGCTGAGTGTGGGATCCCTCGGAAGTAGCTGGCAGAGAGTGGGGGGGACTCAAAGACATCATCAG... |
Task1_train_25569 | A sequence alteration has been identified in CYGB, PRCD (cytoglobin| photoreceptor disc component) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa 36 | GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCC... | GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCC... |
Task1_train_25570 | A variant was discovered in gene CYGB, PRCD (cytoglobin| photoreceptor disc component), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinal dystrophy | GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCC... | GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCC... |
Task1_train_25571 | With a mutation on Chromosome 17 in gene CYGB, PRCD (cytoglobin| photoreceptor disc component), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa | ACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGT... | ACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGT... |
Task1_train_25572 | The variant affects gene MFSD11, SRSF2 (major facilitator superfamily domain containing 11| serine and arginine rich splicing factor 2), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Atypical chronic myeloid leukemia, BCR-ABL1 negative | GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTT... | GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTT... |
Task1_train_25573 | Located on Chromosome 17, this mutation impacts MFSD11, SRSF2 (major facilitator superfamily domain containing 11| serine and arginine rich splicing factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Acute myeloid leukemia | GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTT... | GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTT... |
Task1_train_25574 | The gene SEPTIN9 (septin 9), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTG... | TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTG... |
Task1_train_25575 | This alteration occurs within gene SEPTIN9 (septin 9) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Amyotrophic neuralgia | TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTG... | TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTG... |
Task1_train_25576 | Consider this mutation in SEPTIN9 (septin 9) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Amyotrophic neuralgia | ATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGA... | ATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGA... |
Task1_train_25577 | This sequence variant lies in DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Spermatogenic failure 39 | GAATTCTCTGGAGATGCACCCAGGCTGTTGCAGGAACCAGTAAGTATTTCAACACCTTGTCCCTGCTGAGTTGGGTTCCACTCCCAGCCCTTTTCTGTCCTGTTACTACTCTGGCAATGACCTGTCAGAGGACTGGTTAGCGGCCACCTCCGTATCAGACAGTCTTGAAGGCCAACTGTCAGCTACGAGGTTAAACCTAGAGCATCAGGGGCCGTTGCCTGCTTGAGGTCTCCTCTGGAAACCTGCAGAAGACAGCTGTGTCTCTCCAAGTCACCACTTGAGGGGGCCCAATACTCGCGGTAAAGCTGCTCCCAGCACCT... | GAATTCTCTGGAGATGCACCCAGGCTGTTGCAGGAACCAGTAAGTATTTCAACACCTTGTCCCTGCTGAGTTGGGTTCCACTCCCAGCCCTTTTCTGTCCTGTTACTACTCTGGCAATGACCTGTCAGAGGACTGGTTAGCGGCCACCTCCGTATCAGACAGTCTTGAAGGCCAACTGTCAGCTACGAGGTTAAACCTAGAGCATCAGGGGCCGTTGCCTGCTTGAGGTCTCCTCTGGAAACCTGCAGAAGACAGCTGTGTCTCTCCAAGTCACCACTTGAGGGGGCCCAATACTCGCGGTAAAGCTGCTCCCAGCACCT... |
Task1_train_25578 | This genomic variant is located on Chromosome 17, within the DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spermatogenic failure 39 | GTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTG... | GTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTG... |
Task1_train_25579 | The gene DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spermatogenic failure 39 | TCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAG... | TCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAG... |
Task1_train_25580 | A sequence alteration has been identified in CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Desbuquois dysplasia 1 | CTCCCGTGCGCATGCCCAGCATCCTGCGCAGGCGCTCTCGTGGCCAGGCCTCTGCAAACAGTCAGCACAGACCGGGAGACAGAAAACTACACTCCCTCAGACGCTTTATTGTTTACAAAACAGATGGATCCCATAGGGAAGGAACACAATCATTATGCTGACAGCAGCGAACAGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCC... | CTCCCGTGCGCATGCCCAGCATCCTGCGCAGGCGCTCTCGTGGCCAGGCCTCTGCAAACAGTCAGCACAGACCGGGAGACAGAAAACTACACTCCCTCAGACGCTTTATTGTTTACAAAACAGATGGATCCCATAGGGAAGGAACACAATCATTATGCTGACAGCAGCGAACAGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCC... |
Task1_train_25581 | This alteration occurs within gene CANT1 (calcium activated nucleotidase 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Desbuquois dysplasia 1 | GAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGC... | GAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGC... |
Task1_train_25582 | Assess the clinical impact of this variant on gene CANT1 (calcium activated nucleotidase 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; CANT1-related disorder | GAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTC... | GAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTC... |
Task1_train_25583 | Here is a mutation in CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Desbuquois dysplasia 1 | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... |
Task1_train_25584 | A variant has been detected on Chromosome 17 in CANT1 (calcium activated nucleotidase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epiphyseal dysplasia, multiple, 7 | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... |
Task1_train_25585 | Here is a variant affecting CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Desbuquois dysplasia 1 | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... | GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACC... |
Task1_train_25586 | A mutation on Chromosome 17 affecting CANT1 (calcium activated nucleotidase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Desbuquois dysplasia 1 | ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGC... | ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGC... |
Task1_train_25587 | This alteration in CANT1 (calcium activated nucleotidase 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epiphyseal dysplasia, multiple, 7 | ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGC... | ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGC... |
Task1_train_25588 | A variant affecting Chromosome 17, within the gene CANT1 (calcium activated nucleotidase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Desbuquois dysplasia 1 | GCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGA... | GCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGA... |
Task1_train_25589 | This variant lies on Chromosome 17 and affects the gene CBX2 (chromobox 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; 46,XY sex reversal 5 | GCCTTCAGGGAACATGAGAAGGAGGTGCAGAACCGGAAGAGAGGCAAGAGGCCGAGAGGCCGGCCAAGGAAGCTCACTGCCATGTCCTCCTGCAGCCGGCGCTCCAAGCTCAAGGTGGGTGGCTGCGCTGGGTATGCTGACCCCACCTCCCAGCACCCCCTTGGCGTAGGGGGCAGGCAGAGGGAGGGTTTGGGGCCCTCAGGAAGGGGGTGGCACTTCTGCCAACAGTCTGTCCCTCTACTCGGAAAACAGGAGCCCCCTTTCTTCCTGTCTCTCAGCTTCTGCTGCCAGGGGCCCCAGCCGGCTGAGAGTTCCTCCCC... | GCCTTCAGGGAACATGAGAAGGAGGTGCAGAACCGGAAGAGAGGCAAGAGGCCGAGAGGCCGGCCAAGGAAGCTCACTGCCATGTCCTCCTGCAGCCGGCGCTCCAAGCTCAAGGTGGGTGGCTGCGCTGGGTATGCTGACCCCACCTCCCAGCACCCCCTTGGCGTAGGGGGCAGGCAGAGGGAGGGTTTGGGGCCCTCAGGAAGGGGGTGGCACTTCTGCCAACAGTCTGTCCCTCTACTCGGAAAACAGGAGCCCCCTTTCTTCCTGTCTCTCAGCTTCTGCTGCCAGGGGCCCCAGCCGGCTGAGAGTTCCTCCCC... |
Task1_train_25590 | Here’s a variant in CBX2 (chromobox 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; 46,XY sex reversal 5 | GCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGT... | GCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGT... |
Task1_train_25591 | Here is a variant affecting CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primary ciliary dyskinesia | CTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGA... | CTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGA... |
Task1_train_25592 | The gene GAA (alpha glucosidase) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycogen storage disease, type II | CACAATGGAACCCCGTAAGAAACCACAGGGATCAGAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGT... | CACAATGGAACCCCGTAAGAAACCACAGGGATCAGAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGT... |
Task1_train_25593 | Consider a variant on Chromosome 17 in gene CCDC40, GAA (coiled-coil domain 40 molecular ruler complex subunit| alpha glucosidase). Determine its clinical classification and disease relevance. | Pathogenic; Glycogen storage disease, type II | AAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCC... | AAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCC... |
Task1_train_25594 | A genomic change on Chromosome 17 affects GAA (alpha glucosidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glycogen storage disease, type II | GTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTG... | GTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTG... |
Task1_train_25595 | Gene GAA (alpha glucosidase), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glycogen storage disease, type II | TGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGC... | TGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGC... |
Task1_train_25596 | The variant affects gene GAA (alpha glucosidase), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease, type II | GTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGG... | GTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGG... |
Task1_train_25597 | A variant was discovered in gene GAA (alpha glucosidase), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycogen storage disease, type II | GCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACA... | GCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACA... |
Task1_train_25598 | This alteration occurs within gene GAA (alpha glucosidase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Glycogen storage disease, type II | AGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCA... | AGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCA... |
Task1_train_25599 | This mutation is located in gene GAA (alpha glucosidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycogen storage disease, type II | ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGG... | ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGG... |
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