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_2800 | This alteration in IBA57 (iron-sulfur cluster assembly factor IBA57) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGC... | CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGC... |
Task1_train_2801 | This variant affects the gene ACTA1 (actin alpha 1, skeletal muscle) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCC... | TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCC... |
Task1_train_2802 | Consider a variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle). Determine its clinical classification and disease relevance. | Pathogenic; Alpha-actinopathy | AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAA... | AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAA... |
Task1_train_2803 | Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Actin accumulation myopathy | GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTT... | GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTT... |
Task1_train_2804 | Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Alpha-actinopathy | TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTA... | TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTA... |
Task1_train_2805 | Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGAT... | TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGAT... |
Task1_train_2806 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Actin accumulation myopathy | CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAAC... | CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAAC... |
Task1_train_2807 | Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Actin accumulation myopathy | TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCA... | TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCA... |
Task1_train_2808 | A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCA... | TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCA... |
Task1_train_2809 | A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Alpha-actinopathy | AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGG... | AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGG... |
Task1_train_2810 | This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACT... | TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACT... |
Task1_train_2811 | Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Actin accumulation myopathy | TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGA... | TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGA... |
Task1_train_2812 | This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Actin accumulation myopathy | CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAG... | CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAG... |
Task1_train_2813 | Consider this mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Actin accumulation myopathy | CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGG... | CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGG... |
Task1_train_2814 | A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive scapulohumeroperoneal distal myopathy | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... |
Task1_train_2815 | This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Actin accumulation myopathy | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... |
Task1_train_2816 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Nemaline myopathy 2 | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... |
Task1_train_2817 | Here is a mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Actin accumulation myopathy | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... | ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAA... |
Task1_train_2818 | This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Actin accumulation myopathy | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... |
Task1_train_2819 | Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neuromuscular disease | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... |
Task1_train_2820 | Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Actin accumulation myopathy | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... | CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACC... |
Task1_train_2821 | Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Actin accumulation myopathy | CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCC... | CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCC... |
Task1_train_2822 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Actin accumulation myopathy | TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACC... | TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACC... |
Task1_train_2823 | This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Actin accumulation myopathy | AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCG... | AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCG... |
Task1_train_2824 | Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Actin accumulation myopathy | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... |
Task1_train_2825 | A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Fetal akinesia deformation sequence 1 | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... |
Task1_train_2826 | A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Arthrogryposis multiplex congenita | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... |
Task1_train_2827 | This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Actin accumulation myopathy | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... | GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGA... |
Task1_train_2828 | This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Actin accumulation myopathy | TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGG... | TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGG... |
Task1_train_2829 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Actin accumulation myopathy | AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCT... | AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCT... |
Task1_train_2830 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Actin accumulation myopathy | CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTT... | CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTT... |
Task1_train_2831 | This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Actin accumulation myopathy | GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATT... | GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATT... |
Task1_train_2832 | The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Actin accumulation myopathy | AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAG... | AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAG... |
Task1_train_2833 | The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Actin accumulation myopathy | GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGG... | GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGG... |
Task1_train_2834 | Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTC... | TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTC... |
Task1_train_2835 | A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Actin accumulation myopathy | CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGA... | CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGA... |
Task1_train_2836 | This gene mutation involves ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Actin accumulation myopathy | GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGAC... | GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGAC... |
Task1_train_2837 | Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Actin accumulation myopathy | GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTG... | GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTG... |
Task1_train_2838 | The gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTC... | CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTC... |
Task1_train_2839 | A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Nemaline myopathy 3, autosomal dominant or recessive | CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTG... | CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTG... |
Task1_train_2840 | A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Actin accumulation myopathy | TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACAT... | TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACAT... |
Task1_train_2841 | Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... |
Task1_train_2842 | A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Actin accumulation myopathy | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... |
Task1_train_2843 | A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive scapulohumeroperoneal distal myopathy | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... |
Task1_train_2844 | A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alpha-actinopathy | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... | GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAA... |
Task1_train_2845 | Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Actin accumulation myopathy | CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGG... | CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGG... |
Task1_train_2846 | A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Actin accumulation myopathy | CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAG... | CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAG... |
Task1_train_2847 | A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Actin accumulation myopathy | TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCC... | TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCC... |
Task1_train_2848 | This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Actin accumulation myopathy | CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTA... | CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTA... |
Task1_train_2849 | The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Actin accumulation myopathy | CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAA... | CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAA... |
Task1_train_2850 | The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Alpha-actinopathy | CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCA... | CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCA... |
Task1_train_2851 | Gene ACTA1 (actin alpha 1, skeletal muscle), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Actin accumulation myopathy | AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTG... | AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTG... |
Task1_train_2852 | This variant impacts the gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Actin accumulation myopathy | TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAG... | TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAG... |
Task1_train_2853 | A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Actin accumulation myopathy | TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGT... | TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGT... |
Task1_train_2854 | This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Actin accumulation myopathy | AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCG... | AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCG... |
Task1_train_2855 | A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Actin accumulation myopathy | TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCT... | TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCT... |
Task1_train_2856 | This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Non-immune hydrops fetalis | GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCAC... | GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCAC... |
Task1_train_2857 | Given a variant located on Chromosome 1 and affecting ACTA1 (actin alpha 1, skeletal muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCA... | CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCA... |
Task1_train_2858 | This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Actin accumulation myopathy | ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTG... | ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTG... |
Task1_train_2859 | This alteration occurs within gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Actin accumulation myopathy | AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCAT... | AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCAT... |
Task1_train_2860 | The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Actin accumulation myopathy | CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTC... | CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTC... |
Task1_train_2861 | This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Actin accumulation myopathy | ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCC... | ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCC... |
Task1_train_2862 | A variant was discovered on Chromosome 1, affecting ACTA1 (actin alpha 1, skeletal muscle). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Actin accumulation myopathy | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... |
Task1_train_2863 | The following genetic variant occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital myopathy | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... |
Task1_train_2864 | Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Actin accumulation myopathy | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... | GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAA... |
Task1_train_2865 | This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Actin accumulation myopathy | GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAAC... | GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAAC... |
Task1_train_2866 | A variant has been detected on Chromosome 1 in ACTA1 (actin alpha 1, skeletal muscle). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Alpha-actinopathy | ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAA... | ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAA... |
Task1_train_2867 | This mutation is located in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Alpha-actinopathy | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... |
Task1_train_2868 | A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; See cases | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... |
Task1_train_2869 | Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Actin accumulation myopathy | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... | CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTC... |
Task1_train_2870 | Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Actin accumulation myopathy | GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAA... | GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAA... |
Task1_train_2871 | Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Actin accumulation myopathy | GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAA... | GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAA... |
Task1_train_2872 | This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Actin accumulation myopathy | CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAAT... | CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAAT... |
Task1_train_2873 | A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Actin accumulation myopathy | GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTAC... | GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTAC... |
Task1_train_2874 | A genomic change on Chromosome 1 affects COG2 (component of oligomeric golgi complex 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital disorder of glycosylation, type IIq | CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGA... | CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGA... |
Task1_train_2875 | A variant found in Chromosome 1 affects GNPAT (glyceronephosphate O-acyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Rhizomelic chondrodysplasia punctata type 2 | CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTG... | CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTG... |
Task1_train_2876 | This is a variant in SPRTN (SprT-like N-terminal domain), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Progeroid features-hepatocellular carcinoma predisposition syndrome | TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACAT... | TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACAT... |
Task1_train_2877 | This gene mutation involves EGLN1 (egl-9 family hypoxia inducible factor 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Erythrocytosis, familial, 3 | AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTT... | AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTT... |
Task1_train_2878 | A change on Chromosome 1 affects gene EGLN1 (egl-9 family hypoxia inducible factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Erythrocytosis, familial, 3 | AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAG... | AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAG... |
Task1_train_2879 | A variant was discovered on Chromosome 1, affecting EGLN1 (egl-9 family hypoxia inducible factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Erythrocytosis, familial, 3 | TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACT... | TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACT... |
Task1_train_2880 | The gene EGLN1 (egl-9 family hypoxia inducible factor 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not specified | TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACT... | TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACT... |
Task1_train_2881 | Gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACT... | CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACT... |
Task1_train_2882 | This variant impacts the gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTA... | TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTA... |
Task1_train_2883 | Here’s a variant in IRF2BP2 (interferon regulatory factor 2 binding protein 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Immunodeficiency, common variable, 14 | GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAA... | GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAA... |
Task1_train_2884 | This sequence change occurs on Chromosome 1, altering GGPS1 (geranylgeranyl diphosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAA... | GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAA... |
Task1_train_2885 | A variant on Chromosome 1 in gene GGPS1 (geranylgeranyl diphosphate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACC... | GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACC... |
Task1_train_2886 | The following genetic variant occurs in GGPS1 (geranylgeranyl diphosphate synthase 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAAT... | AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAAT... |
Task1_train_2887 | The gene GGPS1 (geranylgeranyl diphosphate synthase 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACC... | GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACC... |
Task1_train_2888 | This alteration in LYST (lysosomal trafficking regulator) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; CHEDIAK-HIGASHI SYNDROME, ADULT TYPE | TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTAC... | TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTAC... |
Task1_train_2889 | The gene EDARADD (EDAR associated via death domain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCT... | CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCT... |
Task1_train_2890 | This is a variant in EDARADD (EDAR associated via death domain), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAAT... | ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAAT... |
Task1_train_2891 | Gene EDARADD (EDAR associated via death domain) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTT... | TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTT... |
Task1_train_2892 | A mutation in EDARADD (EDAR associated via death domain), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTT... | TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTT... |
Task1_train_2893 | This variant affects gene EDARADD (EDAR associated via death domain) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTA... | TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTA... |
Task1_train_2894 | Given a variant located on Chromosome 1 and affecting EDARADD (EDAR associated via death domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGC... | CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGC... |
Task1_train_2895 | A change on Chromosome 1 affects gene EDARADD (EDAR associated via death domain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAA... | CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAA... |
Task1_train_2896 | A change on Chromosome 1 affects gene ACTN2 (actinin alpha 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Primary dilated cardiomyopathy | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
Task1_train_2897 | Given this context: Chromosome 1, gene ACTN2 (actinin alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypertrophic cardiomyopathy | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
Task1_train_2898 | The variant affects gene ACTN2 (actinin alpha 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Dilated cardiomyopathy 1AA | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
Task1_train_2899 | Here is a variant affecting ACTN2 (actinin alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primary familial hypertrophic cardiomyopathy | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
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