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_1500 | The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cataract 1 multiple types | TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTT... | TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTT... |
Task1_train_1501 | Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTT... | TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTT... |
Task1_train_1502 | Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cataract 1 multiple types | GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTT... | GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTT... |
Task1_train_1503 | This mutation occurs in GJA8 (gap junction protein alpha 8) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cataract 1 multiple types | TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCA... | TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCA... |
Task1_train_1504 | Given this context: Chromosome 1, gene GJA8 (gap junction protein alpha 8) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cataract 1 multiple types | TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCA... | TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCA... |
Task1_train_1505 | This sequence variant lies in GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cataract 1 multiple types | GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCAC... | GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCAC... |
Task1_train_1506 | This alteration occurs within gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Cataract 1 multiple types | TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGA... | TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGA... |
Task1_train_1507 | The gene GJA8 (gap junction protein alpha 8) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cataract 1 multiple types | TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGA... | TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGA... |
Task1_train_1508 | Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cataract 1 multiple types | GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGA... | GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGA... |
Task1_train_1509 | Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cataract 1 multiple types | CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAG... | CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAG... |
Task1_train_1510 | A genomic change on Chromosome 1 affects GJA8 (gap junction protein alpha 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cataract 1 multiple types | CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTT... | CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTT... |
Task1_train_1511 | A variant was discovered in gene GJA8 (gap junction protein alpha 8), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 1 multiple types | CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCA... | CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCA... |
Task1_train_1512 | A variant was discovered on Chromosome 1, affecting GJA8 (gap junction protein alpha 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cataract 1 multiple types | GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATT... | GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATT... |
Task1_train_1513 | Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cataract 1 multiple types | TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCAT... | TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCAT... |
Task1_train_1514 | This is a variant in GJA8 (gap junction protein alpha 8), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Cataract 1 multiple types | TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATG... | TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATG... |
Task1_train_1515 | This gene mutation involves GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cataract 1 multiple types | GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGA... | GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGA... |
Task1_train_1516 | Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cataract 1 multiple types | GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGA... | GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGA... |
Task1_train_1517 | This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cataract 1 multiple types | GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATA... | GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATA... |
Task1_train_1518 | Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cataract 1 multiple types | CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATA... | CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATA... |
Task1_train_1519 | Given a variant located on Chromosome 1 and affecting GJA8 (gap junction protein alpha 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cataract 1 multiple types | TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGC... | TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGC... |
Task1_train_1520 | This sequence change occurs on Chromosome 1, altering GJA8 (gap junction protein alpha 8). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cataract 1 multiple types | CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCT... | CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCT... |
Task1_train_1521 | The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cataract 1 multiple types | GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGC... | GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGC... |
Task1_train_1522 | Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cataract 1 multiple types | GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAG... | GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAG... |
Task1_train_1523 | Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cataract 1 multiple types | AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGT... | AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGT... |
Task1_train_1524 | This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cataract 1 multiple types | TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTT... | TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTT... |
Task1_train_1525 | Given this context: Chromosome 1, gene PDE4DIP (phosphodiesterase 4D interacting protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; See cases | AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACC... | AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACC... |
Task1_train_1526 | This variant impacts the gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Nager syndrome | TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCA... | TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCA... |
Task1_train_1527 | The gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAG... | AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAG... |
Task1_train_1528 | A variant was discovered on Chromosome 1, affecting VPS45 (vacuolar protein sorting 45 homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital neutropenia-myelofibrosis-nephromegaly syndrome | CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTG... | CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTG... |
Task1_train_1529 | An alteration has been detected in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa 18 | GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTT... | GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTT... |
Task1_train_1530 | The gene PRPF3 (pre-mRNA processing factor 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa 18 | GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTA... | GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTA... |
Task1_train_1531 | A genetic alteration is present in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinal dystrophy | GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCT... | GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCT... |
Task1_train_1532 | A variant has been detected on Chromosome 1 in PRPF3 (pre-mRNA processing factor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinitis pigmentosa | CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTT... | CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTT... |
Task1_train_1533 | Located on Chromosome 1, this mutation impacts TARS2 (threonyl-tRNA synthetase 2, mitochondrial). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Combined oxidative phosphorylation defect type 21 | AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCA... | AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCA... |
Task1_train_1534 | A variant affecting Chromosome 1, within the gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined oxidative phosphorylation defect type 21 | GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGT... | GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGT... |
Task1_train_1535 | This alteration occurs within gene ECM1 (extracellular matrix protein 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Lipid proteinosis | CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCC... | CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCC... |
Task1_train_1536 | Assess the clinical impact of this variant on gene ADAMTSL4 (ADAMTS like 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGG... | GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGG... |
Task1_train_1537 | Consider this mutation in CTSK (cathepsin K) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Pyknodysostosis | TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACC... | TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACC... |
Task1_train_1538 | The gene CTSK (cathepsin K), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pyknodysostosis | CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCT... | CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCT... |
Task1_train_1539 | A mutation found in CTSK (cathepsin K) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCC... | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCC... |
Task1_train_1540 | This sequence change occurs on Chromosome 1, altering CTSK (cathepsin K). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pyknodysostosis | ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCA... | ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCA... |
Task1_train_1541 | Here’s a variant in CTSK (cathepsin K) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCA... | ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCA... |
Task1_train_1542 | The gene CTSK (cathepsin K) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pyknodysostosis | CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTA... | CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTA... |
Task1_train_1543 | This sequence variant lies in CTSK (cathepsin K) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGT... | TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGT... |
Task1_train_1544 | An alteration has been detected in PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAG... | ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAG... |
Task1_train_1545 | The gene PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAA... | TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAA... |
Task1_train_1546 | Consider this mutation in SCNM1, TNFAIP8L2-SCNM1 (sodium channel modifier 1| TNFAIP8L2-SCNM1 readthrough) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Orofaciodigital syndrome 19 | GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGG... | GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGG... |
Task1_train_1547 | With a mutation on Chromosome 1 in gene ZNF687 (zinc finger protein 687), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Paget disease of bone 6 | GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCT... | GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCT... |
Task1_train_1548 | This alteration in PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hearing loss, autosomal dominant 87 | CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGA... | CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGA... |
Task1_train_1549 | This variant impacts the gene PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hearing loss, autosomal dominant 87 | ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGT... | ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGT... |
Task1_train_1550 | The variant affects gene PI4KB (phosphatidylinositol 4-kinase beta), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hearing loss, autosomal dominant 87 | CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAG... | CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAG... |
Task1_train_1551 | This variant affects the gene PI4KB (phosphatidylinositol 4-kinase beta) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hearing loss, autosomal dominant 87 | CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCAC... | CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCAC... |
Task1_train_1552 | Given a variant located on Chromosome 1 and affecting POGZ (pogo transposable element derived with ZNF domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAG... | GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAG... |
Task1_train_1553 | Given this variant in gene POGZ (pogo transposable element derived with ZNF domain) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATC... | CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATC... |
Task1_train_1554 | This variant impacts the gene RORC (RAR related orphan receptor C) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGG... | TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGG... |
Task1_train_1555 | A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCC... | TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCC... |
Task1_train_1556 | A mutation in GATAD2B (GATA zinc finger domain containing 2B), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACT... | CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACT... |
Task1_train_1557 | A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGA... | AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGA... |
Task1_train_1558 | This variant lies on Chromosome 1 and affects the gene TPM3 (tropomyosin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myopathy with fiber type disproportion | AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAA... | AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAA... |
Task1_train_1559 | A variant found in Chromosome 1 affects TPM3 (tropomyosin 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital myopathy 4B, autosomal recessive | AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAA... | AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAA... |
Task1_train_1560 | A genetic alteration is present in TPM3 (tropomyosin 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital myopathy 4B, autosomal recessive | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... |
Task1_train_1561 | The gene TPM3 (tropomyosin 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital myopathy with fiber type disproportion | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... |
Task1_train_1562 | Consider this mutation in TPM3 (tropomyosin 3) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital myopathy 4B, autosomal recessive | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... |
Task1_train_1563 | Given this variant in gene TPM3 (tropomyosin 3) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; See cases | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... | CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAAT... |
Task1_train_1564 | A sequence alteration has been identified in TPM3 (tropomyosin 3) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... |
Task1_train_1565 | This mutation is located in gene TPM3 (tropomyosin 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Nemaline myopathy | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... |
Task1_train_1566 | This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital myopathy 4A, autosomal dominant | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... |
Task1_train_1567 | This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital myopathy with fiber type disproportion | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... |
Task1_train_1568 | Here is a genetic alteration in TPM3 (tropomyosin 3) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myopathy 4B, autosomal recessive | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... | ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATC... |
Task1_train_1569 | A variant affecting Chromosome 1, within the gene TPM3 (tropomyosin 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital myopathy 4A, autosomal dominant | CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAG... | CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAG... |
Task1_train_1570 | Gene TPM3 (tropomyosin 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myopathy 4A, autosomal dominant | AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCA... | AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCA... |
Task1_train_1571 | With a mutation on Chromosome 1 in gene TPM3 (tropomyosin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myopathy 4B, autosomal recessive | AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCC... | AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCC... |
Task1_train_1572 | Gene TPM3 (tropomyosin 3) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital myopathy with fiber type disproportion | AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCC... | AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCC... |
Task1_train_1573 | Here’s a variant in TPM3 (tropomyosin 3) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital myopathy 4A, autosomal dominant | ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACA... | ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACA... |
Task1_train_1574 | This alteration occurs within gene IL6R (interleukin 6 receptor) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Hyper-IgE recurrent infection syndrome 5, autosomal recessive | GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCG... | GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCG... |
Task1_train_1575 | This genomic variant is located on Chromosome 1, within the CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3 | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... |
Task1_train_1576 | This variant lies on Chromosome 1 and affects the gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1 | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... |
Task1_train_1577 | This gene mutation involves CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... |
Task1_train_1578 | Chromosome 1 houses a mutation in gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... |
Task1_train_1579 | This variant affects gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3 | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... | CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAG... |
Task1_train_1580 | The gene ADAR (adenosine deaminase RNA specific) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Symmetrical dyschromatosis of extremities | CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCAC... | CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCAC... |
Task1_train_1581 | An alteration has been detected in ADAR (adenosine deaminase RNA specific) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Symmetrical dyschromatosis of extremities | GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAAC... | GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAAC... |
Task1_train_1582 | This variant affects the gene KCNN3 (potassium calcium-activated channel subfamily N member 3) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Zimmermann-laband syndrome 3 | TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTT... | TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTT... |
Task1_train_1583 | This alteration occurs within gene KCNN3 (potassium calcium-activated channel subfamily N member 3) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Zimmermann-laband syndrome 3 | TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAG... | TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAG... |
Task1_train_1584 | The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Zimmermann-laband syndrome 3 | TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAA... | TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAA... |
Task1_train_1585 | The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Zimmermann-laband syndrome 3 | ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAG... | ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAG... |
Task1_train_1586 | An alteration has been detected in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; FLAD1-related disorder | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... |
Task1_train_1587 | A sequence alteration has been identified in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... |
Task1_train_1588 | Assess the clinical impact of this variant on gene FLAD1 (flavin adenine dinucleotide synthetase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Myopathy with abnormal lipid metabolism | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... | TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAG... |
Task1_train_1589 | Consider this mutation in DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; DPM3-congenital disorder of glycosylation | ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGA... | ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGA... |
Task1_train_1590 | Chromosome 1 houses a mutation in gene DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; DPM3-congenital disorder of glycosylation | CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCAC... | CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCAC... |
Task1_train_1591 | With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not specified | AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGA... | AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGA... |
Task1_train_1592 | Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gaucher disease | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1593 | A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Gaucher disease type I | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1594 | This mutation occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Parkinson disease, late-onset | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1595 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1596 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Gaucher disease type I | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1597 | An alteration has been detected in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Gaucher disease type II | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1598 | A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Gaucher disease type III | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1599 | Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
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