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_5500 | Here is a variant affecting TUBA4A (tubulin alpha 4a) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Amyotrophic lateral sclerosis type 22 | TCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCG... | TCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCG... |
Task1_train_5501 | Gene TUBA4A (tubulin alpha 4a), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTT... | GTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTT... |
Task1_train_5502 | Gene TUBA4A (tubulin alpha 4a) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Amyotrophic lateral sclerosis type 22 | GCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCC... | GCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCC... |
Task1_train_5503 | A variant was discovered in gene DES (desmin), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary dilated cardiomyopathy | GACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTC... | GACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTC... |
Task1_train_5504 | A genetic alteration is present in DES (desmin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Desmin-related myofibrillar myopathy | GACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTC... | GACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTC... |
Task1_train_5505 | A variant on Chromosome 2 in gene DES (desmin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Myofibrillar myopathy | GAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCT... | GAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCT... |
Task1_train_5506 | A mutation found in DES (desmin) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Desmin-related myofibrillar myopathy | AGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTGACAAGCTGGGGCTCAGAGAGGACGTGCCTGAGCTGGGGCTCAGACAAGGACACACCTACTAGTAACCCCTCCAGCTGGTGATGGCAGGT... | AGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTGACAAGCTGGGGCTCAGAGAGGACGTGCCTGAGCTGGGGCTCAGACAAGGACACACCTACTAGTAACCCCTCCAGCTGGTGATGGCAGGT... |
Task1_train_5507 | A change on Chromosome 2 affects gene DES (desmin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Desmin-related myofibrillar myopathy | CAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCCGGGACCCTCTCCTGCCCCATGTGGAGAAAGGGTCCTCCACCTGTGTGTTTCAAGGGGCCGTGACCT... | CAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCCGGGACCCTCTCCTGCCCCATGTGGAGAAAGGGTCCTCCACCTGTGTGTTTCAAGGGGCCGTGACCT... |
Task1_train_5508 | This variant impacts the gene DES (desmin) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dilated cardiomyopathy 1I | CAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCCGGGACCCTCTCCTGCCCCATGTGGAGAAAGGGTCCTCCACCTGTGTGTTTCAAGGGGCCGTGACCT... | CAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCCGGGACCCTCTCCTGCCCCATGTGGAGAAAGGGTCCTCCACCTGTGTGTTTCAAGGGGCCGTGACCT... |
Task1_train_5509 | Given this variant in gene DES (desmin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Desmin-related myofibrillar myopathy | AGGGGACCCGGTGCCCTGTGGACAGCCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGG... | AGGGGACCCGGTGCCCTGTGGACAGCCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGG... |
Task1_train_5510 | Here’s a variant in DES (desmin) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Desmin-related myofibrillar myopathy | GGACAGCCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGA... | GGACAGCCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGA... |
Task1_train_5511 | Gene DES (desmin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Desmin-related myofibrillar myopathy | CCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGG... | CCCCGTTAAAAAGCATTTTAAGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGG... |
Task1_train_5512 | Mutation context: Chromosome 2, Gene DES (desmin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTT... | AGATGCTGGGGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTT... |
Task1_train_5513 | A genetic alteration is present in DES (desmin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Desmin-related myofibrillar myopathy | GGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCT... | GGCGATATTTATGGGGTCAGGTAGTTGATGGGCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCT... |
Task1_train_5514 | Given this variant in gene DES (desmin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Desmin-related myofibrillar myopathy | GCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCAT... | GCAGAGGAAGGGCTGCAGGAGGCCCAGAGGGCAGTGTAGCCAGAGGGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCAT... |
Task1_train_5515 | This variant affects gene DES (desmin) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Desmin-related myofibrillar myopathy | GGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCC... | GGAGAAGGGAGGCTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCC... |
Task1_train_5516 | This variant affects the gene DES (desmin) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Desmin-related myofibrillar myopathy | CTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCCTCCTGCCACCAA... | CTGATAGGAGACAGGGAAAGCAGGGCAAGGGCCCAGAGTCCAAGCAACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCCTCCTGCCACCAA... |
Task1_train_5517 | The gene DES (desmin) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Desmin-related myofibrillar myopathy | GGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGCTGGGCCCGGCCGATGGGAGGGTTCTTAACTCTTAGGAGGTTTTGTCTCTTCCCTTTTAGGATCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCCGAGGTGAGTGTCTGCTGGCAGGCGGAGGCTGGAGTTGCAGGGGCCAGGAGTCCAGCATGGGCACTGCCCAAGGCCAGCCAGGAGGGAGGATGGGACCCTGGGGCTAGGGACAGACCTGGAGTCTGGGGAAGAAAAAGGGGACCACTGCGGGTA... | GGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGCTGGGCCCGGCCGATGGGAGGGTTCTTAACTCTTAGGAGGTTTTGTCTCTTCCCTTTTAGGATCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCCGAGGTGAGTGTCTGCTGGCAGGCGGAGGCTGGAGTTGCAGGGGCCAGGAGTCCAGCATGGGCACTGCCCAAGGCCAGCCAGGAGGGAGGATGGGACCCTGGGGCTAGGGACAGACCTGGAGTCTGGGGAAGAAAAAGGGGACCACTGCGGGTA... |
Task1_train_5518 | Consider a variant on Chromosome 2 in gene ASIC4-AS1, GMPPA (ASIC4 antisense RNA 1| GDP-mannose pyrophosphorylase A). Determine its clinical classification and disease relevance. | Pathogenic; Alacrima, achalasia, and intellectual disability syndrome | CCCGGAATTCAGGGTGTTGGGGAGGCAGGGGCGCCCCGGGAGTTGGTGTGGGAGCTGGCGTCAGGAGGGAGATGCGCTGCTCTGGCAGCATGGAGGTGTTAGTGGAGACCCCGAGCCCTCTGGCTGTTCAGAAGTAGGGAGGGGGAGGGCAGCTGTCAGTTTCCACCCTTGCTGAAGGCCTGTCAGTGGCAGAGCTGCATGCCAGGTGCTGTAGCGGAGGGAAAGAAAGAAAAAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACG... | CCCGGAATTCAGGGTGTTGGGGAGGCAGGGGCGCCCCGGGAGTTGGTGTGGGAGCTGGCGTCAGGAGGGAGATGCGCTGCTCTGGCAGCATGGAGGTGTTAGTGGAGACCCCGAGCCCTCTGGCTGTTCAGAAGTAGGGAGGGGGAGGGCAGCTGTCAGTTTCCACCCTTGCTGAAGGCCTGTCAGTGGCAGAGCTGCATGCCAGGTGCTGTAGCGGAGGGAAAGAAAGAAAAAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACG... |
Task1_train_5519 | This mutation occurs in ASIC4-AS1, GMPPA (ASIC4 antisense RNA 1| GDP-mannose pyrophosphorylase A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Alacrima, achalasia, and intellectual disability syndrome | TTGTGAGGCAGGCCCCATAGCCCTGTGACCCCAAGTACCCCCAGTCACGGACCCCAACACATACCAGTCTCTGCAGGCTCCATCTCAACTTGCTCACCTTCCTCCTCCCCTCTCCCTTCTCCACTTGCCATCTCCAGCAGAGCCTCCTGAGTCCCTCCCCTTCTAACCTCATTCTGTCCCTCTTCCTTATCCATCCCAGTTCCTCCTCTGTCACTGCCTGCCCACTCCCCTTCTGGTCCATTTCTCCTAAGCCCTGAGTGTCCCAGAGACGTCTTTCAGAACAGACAGCAACACACAGTTGGGCGCACACATGCTCGGGT... | TTGTGAGGCAGGCCCCATAGCCCTGTGACCCCAAGTACCCCCAGTCACGGACCCCAACACATACCAGTCTCTGCAGGCTCCATCTCAACTTGCTCACCTTCCTCCTCCCCTCTCCCTTCTCCACTTGCCATCTCCAGCAGAGCCTCCTGAGTCCCTCCCCTTCTAACCTCATTCTGTCCCTCTTCCTTATCCATCCCAGTTCCTCCTCTGTCACTGCCTGCCCACTCCCCTTCTGGTCCATTTCTCCTAAGCCCTGAGTGTCCCAGAGACGTCTTTCAGAACAGACAGCAACACACAGTTGGGCGCACACATGCTCGGGT... |
Task1_train_5520 | This variant impacts the gene ASIC4-AS1, GMPPA (ASIC4 antisense RNA 1| GDP-mannose pyrophosphorylase A) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alacrima, achalasia, and intellectual disability syndrome | CTCCACTTGCCATCTCCAGCAGAGCCTCCTGAGTCCCTCCCCTTCTAACCTCATTCTGTCCCTCTTCCTTATCCATCCCAGTTCCTCCTCTGTCACTGCCTGCCCACTCCCCTTCTGGTCCATTTCTCCTAAGCCCTGAGTGTCCCAGAGACGTCTTTCAGAACAGACAGCAACACACAGTTGGGCGCACACATGCTCGGGTGCAGACGTGTGCACGTGCACACACAGACAGACATGCATACTCTCAGGCTGAGGCTCCCCTTGGAACATAGCACCAGAGCCCTGCTCACCAGTCCCAGGGTCTTCCCTCCTGGGGCTAG... | CTCCACTTGCCATCTCCAGCAGAGCCTCCTGAGTCCCTCCCCTTCTAACCTCATTCTGTCCCTCTTCCTTATCCATCCCAGTTCCTCCTCTGTCACTGCCTGCCCACTCCCCTTCTGGTCCATTTCTCCTAAGCCCTGAGTGTCCCAGAGACGTCTTTCAGAACAGACAGCAACACACAGTTGGGCGCACACATGCTCGGGTGCAGACGTGTGCACGTGCACACACAGACAGACATGCATACTCTCAGGCTGAGGCTCCCCTTGGAACATAGCACCAGAGCCCTGCTCACCAGTCCCAGGGTCTTCCCTCCTGGGGCTAG... |
Task1_train_5521 | A mutation in SLC4A3 (solute carrier family 4 member 3), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Short QT syndrome 7 | CAGAGCAGCAGGTGCCCACAGATGAGGCGGAGGCCCAGATGCTGGGTTCTGCAGACCTGGACGACATGAAGAGTGAGTGAGACCTTGTGGCAGCCCCCATGGTCCACTGCGACGGACTCCCAGCCTGCGAGTGACCTTGGAGAGGCTCTGAGCTGTCCCCTGCTAAGGGCTGAGTCCTCTCTGAATCCCTGTCTGCTGGGATGTGGCCAGTGATGGGGACCTCACTACCTCACCCAGCCACCCTCTCTGACGGCCAGAGCTGAGATTTCCTTTCCTGACACCTCACGCCTCAGTCCTGATTCTGTCCTCTGAGTCACCCC... | CAGAGCAGCAGGTGCCCACAGATGAGGCGGAGGCCCAGATGCTGGGTTCTGCAGACCTGGACGACATGAAGAGTGAGTGAGACCTTGTGGCAGCCCCCATGGTCCACTGCGACGGACTCCCAGCCTGCGAGTGACCTTGGAGAGGCTCTGAGCTGTCCCCTGCTAAGGGCTGAGTCCTCTCTGAATCCCTGTCTGCTGGGATGTGGCCAGTGATGGGGACCTCACTACCTCACCCAGCCACCCTCTCTGACGGCCAGAGCTGAGATTTCCTTTCCTGACACCTCACGCCTCAGTCCTGATTCTGTCCTCTGAGTCACCCC... |
Task1_train_5522 | This mutation is located in gene PAX3 (paired box 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Waardenburg syndrome type 3 | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... |
Task1_train_5523 | This mutation occurs in PAX3 (paired box 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Alveolar rhabdomyosarcoma | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... |
Task1_train_5524 | An alteration has been detected in PAX3 (paired box 3) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Waardenburg syndrome type 1 | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... |
Task1_train_5525 | This mutation occurs in PAX3 (paired box 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Craniofacial-deafness-hand syndrome | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... |
Task1_train_5526 | The gene PAX3 (paired box 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Waardenburg syndrome type 1 | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... | TGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCA... |
Task1_train_5527 | This variant affects gene PAX3 (paired box 3) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Waardenburg syndrome type 1 | GTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCAG... | GTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCAG... |
Task1_train_5528 | The gene PAX3 (paired box 3) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Waardenburg syndrome | GTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCAG... | GTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAAGAGCAGTAATTCCCCTAATTTGTGCATTTATAACTCGTTTATTCCAGAGTTCGTAGTCATCAG... |
Task1_train_5529 | A mutation in PAX3 (paired box 3), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Waardenburg syndrome type 1 | TAGGCTTCAGTGAGCTGTGATTGTACCACTGTACTCCAACCTGGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGG... | TAGGCTTCAGTGAGCTGTGATTGTACCACTGTACTCCAACCTGGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGG... |
Task1_train_5530 | Here is a mutation in PAX3 (paired box 3) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Waardenburg syndrome type 1 | CAGTGAGCTGTGATTGTACCACTGTACTCCAACCTGGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGA... | CAGTGAGCTGTGATTGTACCACTGTACTCCAACCTGGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGA... |
Task1_train_5531 | A sequence alteration has been identified in PAX3 (paired box 3) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Waardenburg syndrome type 1 | GGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGG... | GGGCTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGG... |
Task1_train_5532 | This sequence change occurs on Chromosome 2, altering PAX3 (paired box 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; PAX3-related disorder | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... |
Task1_train_5533 | With a mutation on Chromosome 2 in gene PAX3 (paired box 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Waardenburg syndrome type 1 | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... |
Task1_train_5534 | This mutation occurs in PAX3 (paired box 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Rare genetic deafness | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... |
Task1_train_5535 | This alteration occurs within gene PAX3 (paired box 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Waardenburg syndrome | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... | CTACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAATTAAATCTGCCTTCTTCATGTACCTCTCTTCATTCCTTCAAGATCTCATCCCTTGAGTTCATGTCCTTTGCAGGGACATGGATGAACCTGGAAACCATCATTCTCAGTAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATGAGTGAGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAAAATCACACACCAGGGCCTGTTGGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTG... |
Task1_train_5536 | Gene PAX3 (paired box 3) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Waardenburg syndrome type 3 | CTTTTAATTAAAAACAAACCCTCCCGTGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGG... | CTTTTAATTAAAAACAAACCCTCCCGTGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGG... |
Task1_train_5537 | This gene mutation involves PAX3 (paired box 3) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Waardenburg syndrome type 1 | ACCCTCCCGTGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGT... | ACCCTCCCGTGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGT... |
Task1_train_5538 | Mutation context: Chromosome 2, Gene PAX3 (paired box 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACC... | TGCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACC... |
Task1_train_5539 | Here is a genetic alteration in PAX3 (paired box 3) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Waardenburg syndrome type 1 | GCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCC... | GCGCCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCC... |
Task1_train_5540 | Gene PAX3 (paired box 3) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Waardenburg syndrome type 1 | CCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCC... | CCCTCTCGCTGGCCCCGTGCTTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCC... |
Task1_train_5541 | Gene PAX3 (paired box 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Waardenburg syndrome type 1 | TTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTC... | TTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTC... |
Task1_train_5542 | Gene PAX3 (paired box 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Waardenburg syndrome | TTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTC... | TTGCCCCTCTTCTCCCTCCGCCTCCCCCAGGCTGCCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTC... |
Task1_train_5543 | Chromosome 2 houses a mutation in gene PAX3 (paired box 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGG... | CCGTGGCGGGGGGCTCCGGACCGTCCCTGAGACTCTCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGG... |
Task1_train_5544 | This alteration in PAX3 (paired box 3) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Waardenburg syndrome type 1 | TCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACC... | TCGGAGGAAATCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACC... |
Task1_train_5545 | A variant affecting Chromosome 2, within the gene PAX3 (paired box 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Waardenburg syndrome type 3 | TCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGC... | TCGGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGC... |
Task1_train_5546 | This is a variant in PAX3 (paired box 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Waardenburg syndrome type 1 | TGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGCTGAGATCGATAA... | TGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGCTGAGATCGATAA... |
Task1_train_5547 | This variant affects gene FARSB (phenylalanyl-tRNA synthetase subunit beta) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Cerebral calcification | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... |
Task1_train_5548 | Consider this mutation in FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Vascular dilatation | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... |
Task1_train_5549 | A variant on Chromosome 2 in gene FARSB (phenylalanyl-tRNA synthetase subunit beta) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cirrhosis of liver | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... |
Task1_train_5550 | Located on Chromosome 2, this mutation impacts FARSB (phenylalanyl-tRNA synthetase subunit beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Interstitial pneumonitis | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... | CCGCACCCTCTGCCTGGTTGTGAGCATGCCCAGCCCCACAGAACCGTGCATGGCCCTCAGCGAGCCCTAGCAATTAGGGAAGAGGCCTACTGCTGAAACAGTATTACAAAACTTTTGAGGAAACCTAGTGTAATTAACCTAACCCTGATTTATAAATGTAACCATATATTTATAAACATGAACAGATCATCAAGGATCAAAACAATACAAAACCCAAAGAAATAAGATGAATGGAAACAACTCAAGGCTAACAGAAAAATTTGACAATGGAATTATATCAAATTCTCAGTTATCTCTACCAGTGGAGGATTTAAGGCACA... |
Task1_train_5551 | This genomic variant is located on Chromosome 2, within the FARSB (phenylalanyl-tRNA synthetase subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebral calcification | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... |
Task1_train_5552 | The gene FARSB (phenylalanyl-tRNA synthetase subunit beta), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Vascular dilatation | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... |
Task1_train_5553 | Gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cirrhosis of liver | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... |
Task1_train_5554 | Located on Chromosome 2, this mutation impacts FARSB (phenylalanyl-tRNA synthetase subunit beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Interstitial pneumonitis | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... | AAAGTGAGCCAATTTAAAAGAAAATATTACAACTACTATGCAGATATAGCAAAAATCAATATGATGAAGTGTGAATTATTTACACTTAGAAAGTCAGAGACTAGGCTTAAAAAAATGGCTGTTACTCTTGTGCAAAACTGGATTTAACAACATAGACCATCTTTGCTCAGCGATGCTTAGGCTTGCCTATAAACATCTTTATAAACATCTTTAATGTTGAAATTCCTACAGGAAAATTTAGTACAAATCTGAAACCCTCTAGGAGCTCACTCCTTTCTCTTCCCCCCAGTGATAAACATTGAATGTATTAAAGTGACTTT... |
Task1_train_5555 | Consider a variant on Chromosome 2 in gene FARSB (phenylalanyl-tRNA synthetase subunit beta). Determine its clinical classification and disease relevance. | Pathogenic; Cerebral calcification | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... |
Task1_train_5556 | A mutation found in FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Vascular dilatation | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... |
Task1_train_5557 | Here’s a variant in FARSB (phenylalanyl-tRNA synthetase subunit beta) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cirrhosis of liver | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... |
Task1_train_5558 | The gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Interstitial pneumonitis | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... | AAGCCTTCTCAGATTGTATCAGCTGGCAGTAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGA... |
Task1_train_5559 | Given this variant in gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Rajab interstitial lung disease with brain calcifications | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... |
Task1_train_5560 | This alteration occurs within gene FARSB (phenylalanyl-tRNA synthetase subunit beta) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Cerebral calcification | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... |
Task1_train_5561 | Gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cirrhosis of liver | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... |
Task1_train_5562 | The gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Interstitial pneumonitis | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... |
Task1_train_5563 | Here is a mutation in FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Vascular dilatation | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... | TAACTTGCCCTTACAAACAGCCGGAATATCACCAAAACTTTTTAAAGTACTTAATGCTTATGACTTTATCCAATATTTATGCGTATGTCTTATCTCCCTGAACAGATTATATGTTCTAGTTATAGGAACCACATTTTTAATCTTTATATTTGTTTATTCATTCATTTTTTTAAAGCCAGTGTCTCATTCTGTGACCCAGTCTCAAGTGCAGTGGCACAAACATAGCTCACAGCAGCCTCGACCTCCCAGACTCAAGCAATCCTCCTGCCTCAGTCTCCCCAATAGCTAGGACTACAGGCGCAGGCCACCAAACCCAAGTA... |
Task1_train_5564 | Given this variant in gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Rajab interstitial lung disease with brain calcifications 1 | TTCTCATAGCAAATCAGCTAAGCCTCCTTCTTACCTCCAGAAACGCAAACATCTATGTCTCAGACATCATTAAGTTTTGTAAATACATTCAAACTGCCTCATAAAAATAGCCTTCAGAAAGGAATTAAGAGGGCAAAATTTAAATTAAAAGTTTTTGTTTAACTATATAACTAGGCAAGGCCAGGCACGGCAGCTCACATCTATAATCCCAGGGCTTTGGGAGGCCAAGGTGGGAGAATCGCTTGAGCCCAGGAGTTTAAGGTTGCAGTAAGCCATGACTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGAGCCT... | TTCTCATAGCAAATCAGCTAAGCCTCCTTCTTACCTCCAGAAACGCAAACATCTATGTCTCAGACATCATTAAGTTTTGTAAATACATTCAAACTGCCTCATAAAAATAGCCTTCAGAAAGGAATTAAGAGGGCAAAATTTAAATTAAAAGTTTTTGTTTAACTATATAACTAGGCAAGGCCAGGCACGGCAGCTCACATCTATAATCCCAGGGCTTTGGGAGGCCAAGGTGGGAGAATCGCTTGAGCCCAGGAGTTTAAGGTTGCAGTAAGCCATGACTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGAGCCT... |
Task1_train_5565 | The following genetic variant occurs in FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Vascular dilatation | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... |
Task1_train_5566 | This variant impacts the gene FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cirrhosis of liver | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... |
Task1_train_5567 | Here is a variant affecting FARSB (phenylalanyl-tRNA synthetase subunit beta) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Interstitial pneumonitis | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... |
Task1_train_5568 | A genomic change on Chromosome 2 affects FARSB (phenylalanyl-tRNA synthetase subunit beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cerebral calcification | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... | AATTTGTCCTTATTACCTCTTCTGTGATAATCAATTTCTGGATTTTTCCATCAGGCATTACCCGTTTATACACTGGAGCCTTTATCCTAAAATAATATTTAAATGAATTTACTCATAATTAATCAAGACATTATATAAAATAATTACATTCTATGCTGTATATAGGAAGTATACAAAATGAATTAGGGCAATGGGTTGAGTTACAGCAAGTCAAATTTTGGCTGAACACTAAAAAAAAAAAACAAAAAAAAAAACTAACAAACTTTTTAACATTTAAAGTTGTCCAAAAATGACATAAGATGCCTCATAGTAATGTATTT... |
Task1_train_5569 | Given a variant located on Chromosome 2 and affecting CUL3 (cullin 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pseudohypoaldosteronism type 2A | CCGATTTCTTCACAAGTATCCACTAAATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATA... | CCGATTTCTTCACAAGTATCCACTAAATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATA... |
Task1_train_5570 | Gene CUL3 (cullin 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pseudohypoaldosteronism type 2A | CATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAACAATCTAAAAATAAAAATCCAGGATAATTACACCACTATTTCCTGTCCACCCGAAATTTCTGTCATGGACTTGCATCTTTCCTCCTCTCAGCTCTTCTCCACTGTAAACACTG... | CATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAACAATCTAAAAATAAAAATCCAGGATAATTACACCACTATTTCCTGTCCACCCGAAATTTCTGTCATGGACTTGCATCTTTCCTCCTCTCAGCTCTTCTCCACTGTAAACACTG... |
Task1_train_5571 | This variant impacts the gene CUL3 (cullin 3) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pseudohypoaldosteronism type 2E | CATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAACAATCTAAAAATAAAAATCCAGGATAATTACACCACTATTTCCTGTCCACCCGAAATTTCTGTCATGGACTTGCATCTTTCCTCCTCTCAGCTCTTCTCCACTGTAAACACTG... | CATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAACAATCTAAAAATAAAAATCCAGGATAATTACACCACTATTTCCTGTCCACCCGAAATTTCTGTCATGGACTTGCATCTTTCCTCCTCTCAGCTCTTCTCCACTGTAAACACTG... |
Task1_train_5572 | A mutation in CUL3 (cullin 3), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder without autism with seizures | CAACCTCCCAAGTGGCTGGGACTAGGCATGTGCCATCATGCCCAGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCAATTTGCCCAGGTTGGTCTTAAACTCCTGAGCTCAAGCGATCCACCTGCTTCAGCCTCCCAAAAATACTGAGATTACAGGCGTTTGCCACCCTGCCTGGACAAAAGCAGGATTTTAAAATTTAATTTAGAATCACAGATAGCTACTGTGTTGTTGGAAACCTAAGGTACTAAATAAAGGAGAACTCTGGTGAGTACTATTATGGTATTCCTTCATTCACGTAAGTGCTCGCCATGATA... | CAACCTCCCAAGTGGCTGGGACTAGGCATGTGCCATCATGCCCAGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCAATTTGCCCAGGTTGGTCTTAAACTCCTGAGCTCAAGCGATCCACCTGCTTCAGCCTCCCAAAAATACTGAGATTACAGGCGTTTGCCACCCTGCCTGGACAAAAGCAGGATTTTAAAATTTAATTTAGAATCACAGATAGCTACTGTGTTGTTGGAAACCTAAGGTACTAAATAAAGGAGAACTCTGGTGAGTACTATTATGGTATTCCTTCATTCACGTAAGTGCTCGCCATGATA... |
Task1_train_5573 | A change on Chromosome 2 affects gene CUL3 (cullin 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pseudohypoaldosteronism type 2E | GCATCACTCGTTCTATTTCTTCATTAATTCTAGCTTCTACTTTCTTTATATATACTGAAGCACTATTTTCTGCTAAAAATTTCTGGCTTTCCATCTGCCATTTAAAAATATATATATTTTTTAAACATAGAAGAAAAGAGTGTTTTTGCTTTTAGCTGGGTTTCTACAGTGTTTATAATAAATCAGCCTAAATAAAATAAGTACTATTAGCATTTTGTGTAATTTCTCATTACACGAAAGACTGATATAGTCTGAATTATATCCTTTAAAGCCTTTGGTATTTACATAATACTAAATTAAAACATTATCTGTAAGCAATG... | GCATCACTCGTTCTATTTCTTCATTAATTCTAGCTTCTACTTTCTTTATATATACTGAAGCACTATTTTCTGCTAAAAATTTCTGGCTTTCCATCTGCCATTTAAAAATATATATATTTTTTAAACATAGAAGAAAAGAGTGTTTTTGCTTTTAGCTGGGTTTCTACAGTGTTTATAATAAATCAGCCTAAATAAAATAAGTACTATTAGCATTTTGTGTAATTTCTCATTACACGAAAGACTGATATAGTCTGAATTATATCCTTTAAAGCCTTTGGTATTTACATAATACTAAATTAAAACATTATCTGTAAGCAATG... |
Task1_train_5574 | A variant on Chromosome 2 in gene IRS1 (insulin receptor substrate 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Type 2 diabetes mellitus | TAAGTGCATTCTCCCTGAGGAAGCAGTGGGAAAGAACAGGAAGGGGCAGAGGCGAAGAACAGAATTCAAGGACAAGGTTAAAAGCAGTTTTGTCTTCTGACTTTGTCACCATGAAACGCACCTGCTGTGATGTCCAGTTGAGCTACTGACGGTCCTCTGGCTGCTTCTGGAAACTGATGCTGGCATAGGCGCTTAAATCCTCACTTGAGCGGCGGGTGGAGCTGCTCTCACCGCTGCCCAGGGGTTGATGAGGGGGTGGGGGTGGGGGAGGCTGCGGTTCAGGGGTGCACTCCTGAGGGCACTGTTTGAAGTCCTTGACC... | TAAGTGCATTCTCCCTGAGGAAGCAGTGGGAAAGAACAGGAAGGGGCAGAGGCGAAGAACAGAATTCAAGGACAAGGTTAAAAGCAGTTTTGTCTTCTGACTTTGTCACCATGAAACGCACCTGCTGTGATGTCCAGTTGAGCTACTGACGGTCCTCTGGCTGCTTCTGGAAACTGATGCTGGCATAGGCGCTTAAATCCTCACTTGAGCGGCGGGTGGAGCTGCTCTCACCGCTGCCCAGGGGTTGATGAGGGGGTGGGGGTGGGGGAGGCTGCGGTTCAGGGGTGCACTCCTGAGGGCACTGTTTGAAGTCCTTGACC... |
Task1_train_5575 | Here is a variant affecting COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | GGCTTAAGTTTTAGGTGCACAAAAATATTCAACATGCCAGAGCATGGTTTAAAAAATATCAAATGGGTCAAATGAACTAGGAAATATTCTGCTACATCAAGAAAATATTTCATCTTAAAATACACATTTTTCTTTTTACCAGAAAATACTCTTAAAATAAATTGCCACCCTGGGGGCAGCCCATAGCAAAACTCATTTGAAATGTGTTCTGCATATAAGAGCTCATTACAAATCAAGGTTTGGCAAGGAAAACATTTCTTATAAACAAAATTTTAATTGAGTTTTTCTTCTCAATTATTTTTAAGTGCACGGAAACAAAG... | GGCTTAAGTTTTAGGTGCACAAAAATATTCAACATGCCAGAGCATGGTTTAAAAAATATCAAATGGGTCAAATGAACTAGGAAATATTCTGCTACATCAAGAAAATATTTCATCTTAAAATACACATTTTTCTTTTTACCAGAAAATACTCTTAAAATAAATTGCCACCCTGGGGGCAGCCCATAGCAAAACTCATTTGAAATGTGTTCTGCATATAAGAGCTCATTACAAATCAAGGTTTGGCAAGGAAAACATTTCTTATAAACAAAATTTTAATTGAGTTTTTCTTCTCAATTATTTTTAAGTGCACGGAAACAAAG... |
Task1_train_5576 | Chromosome 2 houses a mutation in gene COL4A4 (collagen type IV alpha 4 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive Alport syndrome | CATTCTAAACTTTTTTAGAAAATACTAATGCCAAATGTCAAACTGTTGCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGC... | CATTCTAAACTTTTTTAGAAAATACTAATGCCAAATGTCAAACTGTTGCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGC... |
Task1_train_5577 | This is a variant in COL4A4 (collagen type IV alpha 4 chain), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGGACCTCAAGGAAGGATAACTGGAATATGTGATTTTAAGTTAGGACTTGAAATATGAAGAGGATTTAGCCAGGCTTGGAGATGGTGGTAGTGACTACTCAAAAGAGATATACCGTCAGA... | TCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGGACCTCAAGGAAGGATAACTGGAATATGTGATTTTAAGTTAGGACTTGAAATATGAAGAGGATTTAGCCAGGCTTGGAGATGGTGGTAGTGACTACTCAAAAGAGATATACCGTCAGA... |
Task1_train_5578 | Given a variant located on Chromosome 2 and affecting COL4A4 (collagen type IV alpha 4 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive Alport syndrome | AATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATTCATACCTTTCTGGCCATCTTTTCCATCACATCCTGGAAAGCCTTTGTATCCTGGAGGGCCTGGTGGGCCAGGGGGACCTGGTGGCCC... | AATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATTCATACCTTTCTGGCCATCTTTTCCATCACATCCTGGAAAGCCTTTGTATCCTGGAGGGCCTGGTGGGCCAGGGGGACCTGGTGGCCC... |
Task1_train_5579 | The variant affects gene COL4A4 (collagen type IV alpha 4 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TACTTCAGTTATACAGTTCAGTTAAAATATTATACTATGTCTAGGCCGGGCACAGTGCCTCACACCTGTAATCCAAGCAGTTTGGGAAGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGACAAAACTCTGTCTCTACCAAAAATACAAAAATCAGCTGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCCACTCCAGCCTGGGTGAAACAGCAAGACTCCA... | TACTTCAGTTATACAGTTCAGTTAAAATATTATACTATGTCTAGGCCGGGCACAGTGCCTCACACCTGTAATCCAAGCAGTTTGGGAAGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGACAAAACTCTGTCTCTACCAAAAATACAAAAATCAGCTGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCCACTCCAGCCTGGGTGAAACAGCAAGACTCCA... |
Task1_train_5580 | A sequence alteration has been identified in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive Alport syndrome | ATGGCACATTCAAAAGCCACTGTAGGCCATGACTCCCACAGTCCCACAAAGCTACTGGTCACTCCATAATGCTTCCAGACACAAGGACCTACATTATGGTTGGGAGCCAGTTTGAAGTGGAGGACTCAAAATGGAGTGGGAGGAAAGGCAAGAAAATAGATGGGGTTTCAAGAGAATTACAGAGGTAAGTTAGATGTATCTTATAGTAACTGCCCATTTACACTCCTTTCTAAAGGAGTTCCACCAGCACCTTGTGGAAGTCTTTCTCCTATCTGATTTTACTCATAATAATGGCCAATTGCTTGAGGGGTGGGATTCTG... | ATGGCACATTCAAAAGCCACTGTAGGCCATGACTCCCACAGTCCCACAAAGCTACTGGTCACTCCATAATGCTTCCAGACACAAGGACCTACATTATGGTTGGGAGCCAGTTTGAAGTGGAGGACTCAAAATGGAGTGGGAGGAAAGGCAAGAAAATAGATGGGGTTTCAAGAGAATTACAGAGGTAAGTTAGATGTATCTTATAGTAACTGCCCATTTACACTCCTTTCTAAAGGAGTTCCACCAGCACCTTGTGGAAGTCTTTCTCCTATCTGATTTTACTCATAATAATGGCCAATTGCTTGAGGGGTGGGATTCTG... |
Task1_train_5581 | An alteration has been detected in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hematuria, benign familial, 1 | TAGCATCCCATTCTCTACACTTGGTTGTGAAACAGTAATTGTGTTACTAATTTGAATTTTAAATTACAAATAAACAAGTTGATACTAAATAAAATAGTATTATAAATCACAGCATATGAAAGACTTTACAAATCCATTTCATTCCAAAAGATGGATAGTGAGTTACGTGTTTTCCAGAAGTATAATGTTGGCAACTACATGTATTGTACCTCCTGGATTCTGAAAGGGTATTTTACTCATGGTTGTGAAGACGAAATATATTGAAAGCAAAATCTGTGATATCTGAAACTGGAAGACTTTAAAGACAGGATTTGGGTGAT... | TAGCATCCCATTCTCTACACTTGGTTGTGAAACAGTAATTGTGTTACTAATTTGAATTTTAAATTACAAATAAACAAGTTGATACTAAATAAAATAGTATTATAAATCACAGCATATGAAAGACTTTACAAATCCATTTCATTCCAAAAGATGGATAGTGAGTTACGTGTTTTCCAGAAGTATAATGTTGGCAACTACATGTATTGTACCTCCTGGATTCTGAAAGGGTATTTTACTCATGGTTGTGAAGACGAAATATATTGAAAGCAAAATCTGTGATATCTGAAACTGGAAGACTTTAAAGACAGGATTTGGGTGAT... |
Task1_train_5582 | Gene COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTGCCTGATTTTGCAAACACTGGCCAGCTGTAGCAATGTGCAGGCGTGGGCTCCTACCAGCTTGACGAGTGCCAGTTACCACAATTCAAGAACCCT... | CTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTGCCTGATTTTGCAAACACTGGCCAGCTGTAGCAATGTGCAGGCGTGGGCTCCTACCAGCTTGACGAGTGCCAGTTACCACAATTCAAGAACCCT... |
Task1_train_5583 | Given this context: Chromosome 2, gene COL4A4 (collagen type IV alpha 4 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive Alport syndrome | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... |
Task1_train_5584 | Gene COL4A4 (collagen type IV alpha 4 chain), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hematuria, benign familial, 1 | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... |
Task1_train_5585 | Chromosome 2 houses a mutation in gene COL4A4 (collagen type IV alpha 4 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Benign familial hematuria | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... |
Task1_train_5586 | This variant lies on Chromosome 2 and affects the gene COL4A4 (collagen type IV alpha 4 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Polycystic kidney disease | GCATCCATAAAAGAGTAAAAGGGGAGCTTATTTAATTGTAAGTAGGGTAAGCCCCAGACCCTTCACAGTTCTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCAT... | GCATCCATAAAAGAGTAAAAGGGGAGCTTATTTAATTGTAAGTAGGGTAAGCCCCAGACCCTTCACAGTTCTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCAT... |
Task1_train_5587 | The gene COL4A4 (collagen type IV alpha 4 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTTCACAAGTGAGATAGTCGGATTACTGGGTCATTATTTTTATTGACTTACATTATGTTTCACCTGTTACTTT... | TTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTTCACAAGTGAGATAGTCGGATTACTGGGTCATTATTTTTATTGACTTACATTATGTTTCACCTGTTACTTT... |
Task1_train_5588 | Here is a genetic alteration in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive Alport syndrome | ACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCACCAAGGCTGGAGTGCAGTGACGCAGTCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAC... | ACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCACCAAGGCTGGAGTGCAGTGACGCAGTCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAC... |
Task1_train_5589 | This sequence variant lies in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hematuria, benign familial, 1 | ACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCACCAAGGCTGGAGTGCAGTGACGCAGTCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAC... | ACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCACCAAGGCTGGAGTGCAGTGACGCAGTCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAC... |
Task1_train_5590 | Here is a variant affecting COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive Alport syndrome | AAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAGCAGATATACA... | AAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAGCAGATATACA... |
Task1_train_5591 | The gene COL4A4 (collagen type IV alpha 4 chain), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Benign familial hematuria | AAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAGCAGATATACA... | AAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAGCAGATATACA... |
Task1_train_5592 | A mutation found in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ACCCCTGACCTCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATACATTCTTATGTATTCTCTTGACAAGATACATAGCTAGACTCCATCATCCTCCAC... | ACCCCTGACCTCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATACATTCTTATGTATTCTCTTGACAAGATACATAGCTAGACTCCATCATCCTCCAC... |
Task1_train_5593 | Chromosome 2 houses a mutation in gene COL4A4 (collagen type IV alpha 4 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive Alport syndrome | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... |
Task1_train_5594 | A mutation found in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hematuria, benign familial, 1 | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... |
Task1_train_5595 | A mutation in COL4A4 (collagen type IV alpha 4 chain), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive Alport syndrome | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... | AAAGCCCCATAGAGCAACTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTT... |
Task1_train_5596 | This sequence variant lies in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive Alport syndrome | AAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGGATATTGGTAAAGGAAGA... | AAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGGATATTGGTAAAGGAAGA... |
Task1_train_5597 | This alteration in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hematuria, benign familial, 1 | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... |
Task1_train_5598 | This is a variant in COL4A4 (collagen type IV alpha 4 chain), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive Alport syndrome | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... |
Task1_train_5599 | This alteration occurs within gene COL4A4 (collagen type IV alpha 4 chain) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; COL4A4-related disorder | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... | TTCATTTTAATATGCTGGAGACACTATTCTATTACAAACAAGCCTGATTGGAGAATTCTAAGACCAGAGTCCAGTGCTTTCTGACCAACGGAATACTCTATATTATTTATATACTCCTGGGTCAGTTAGGCCAAGGCTGTGCTATCTAAAGGTTAAGTGAACTAGACAAAGCTTTTCCACCTTTGTGGTTATTGAATCCTGCAAACTGAAAGCTAGATTCATGGAAGATTAAACAAGAGTTTTGTAGTTAGCAGTTGAATATCTCAGAAAATTTCTCACTTCTTCTCAGTAAATATAACAAGAGACACAGGCTGGGTAAA... |
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