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 |
|---|---|---|---|---|
Task1_train_3700 | A variant on Chromosome 2 in gene DYSF (dysferlin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3701 | An alteration has been detected in DYSF (dysferlin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Distal myopathy with anterior tibial onset | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3702 | This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3703 | Here’s a variant in DYSF (dysferlin) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Miyoshi muscular dystrophy 1 | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3704 | A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; DYSF-related disorder | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3705 | A variant has been detected on Chromosome 2 in DYSF (dysferlin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Qualitative or quantitative defects of dysferlin | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3706 | A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3707 | Mutation context: Chromosome 2, Gene DYSF (dysferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Distal myopathy with anterior tibial onset | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3708 | A variant was discovered in gene DYSF (dysferlin), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3709 | A variant found in Chromosome 2 affects DYSF (dysferlin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Miyoshi muscular dystrophy 1 | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3710 | This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3711 | The gene DYSF (dysferlin), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Miyoshi muscular dystrophy 1 | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... | GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTT... |
Task1_train_3712 | Gene DYSF (dysferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Qualitative or quantitative defects of dysferlin | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... |
Task1_train_3713 | Given this variant in gene DYSF (dysferlin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Miyoshi muscular dystrophy 1 | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... |
Task1_train_3714 | A change on Chromosome 2 affects gene DYSF (dysferlin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Miyoshi muscular dystrophy 1 | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... |
Task1_train_3715 | Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... |
Task1_train_3716 | A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Distal myopathy with anterior tibial onset | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... | CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGC... |
Task1_train_3717 | Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance. | Pathogenic; Qualitative or quantitative defects of dysferlin | GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATC... | GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATC... |
Task1_train_3718 | Chromosome 2 houses a mutation in gene DYSF (dysferlin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTG... | CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTG... |
Task1_train_3719 | This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACG... | TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACG... |
Task1_train_3720 | This sequence change occurs on Chromosome 2, altering DYSF (dysferlin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Qualitative or quantitative defects of dysferlin | CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCC... | CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCC... |
Task1_train_3721 | A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Qualitative or quantitative defects of dysferlin | CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCC... | CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCC... |
Task1_train_3722 | Gene DYSF (dysferlin), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Qualitative or quantitative defects of dysferlin | CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAAT... | CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAAT... |
Task1_train_3723 | With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome | AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTT... | AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTT... |
Task1_train_3724 | With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome | GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAG... | GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAG... |
Task1_train_3725 | Given this variant in gene SPR (sepiapterin reductase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency | ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAG... | ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAG... |
Task1_train_3726 | A sequence alteration has been identified in SPR (sepiapterin reductase) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Dystonic disorder | TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGG... | TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGG... |
Task1_train_3727 | This gene mutation involves SPR (sepiapterin reductase) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency | TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGG... | TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGG... |
Task1_train_3728 | Here is a genetic alteration in SPR (sepiapterin reductase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency | TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAA... | TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAA... |
Task1_train_3729 | A mutation found in SPR (sepiapterin reductase) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAA... | GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAA... |
Task1_train_3730 | A mutation on Chromosome 2 affecting CCT7 (chaperonin containing TCP1 subunit 7) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Myocardial infarction, susceptibility to, 1 | AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCT... | AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCT... |
Task1_train_3731 | With a mutation on Chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Alstrom syndrome | CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTA... | CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTA... |
Task1_train_3732 | This sequence change occurs on Chromosome 2, altering TPRKB (TP53RK binding protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Galloway-Mowat syndrome 5 | ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATAC... | ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATAC... |
Task1_train_3733 | A variant affecting Chromosome 2, within the gene STAMBP (STAM binding protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Microcephaly-capillary malformation syndrome | TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGAC... | TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGAC... |
Task1_train_3734 | The gene STAMBP (STAM binding protein) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Microcephaly-capillary malformation syndrome | CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAA... | CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAA... |
Task1_train_3735 | This variant lies on Chromosome 2 and affects the gene STAMBP (STAM binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGAT... | GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGAT... |
Task1_train_3736 | The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Chronic intestinal pseudoobstruction | CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACA... | CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACA... |
Task1_train_3737 | Assess the clinical impact of this variant on gene ACTG2 (actin gamma 2, smooth muscle), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Visceral myopathy 1 | TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTG... | TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTG... |
Task1_train_3738 | The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Visceral myopathy 1 | CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTC... | CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTC... |
Task1_train_3739 | Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Visceral myopathy 1 | GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTT... | GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTT... |
Task1_train_3740 | Given a variant located on Chromosome 2 and affecting ACTG2 (actin gamma 2, smooth muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Visceral myopathy 1 | AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTA... | AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTA... |
Task1_train_3741 | The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Visceral myopathy 1 | TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGG... | TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGG... |
Task1_train_3742 | Mutation context: Chromosome 2, Gene ACTG2 (actin gamma 2, smooth muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGG... | TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGG... |
Task1_train_3743 | Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Visceral myopathy 1 | GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCT... | GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCT... |
Task1_train_3744 | A variant affecting Chromosome 2, within the gene ACTG2 (actin gamma 2, smooth muscle), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Visceral myopathy 1 | AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGA... | AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGA... |
Task1_train_3745 | Given this variant in gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGA... | AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGA... |
Task1_train_3746 | A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... |
Task1_train_3747 | A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Visceral myopathy 1 | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... |
Task1_train_3748 | This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... | AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAA... |
Task1_train_3749 | A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; ACTG2-related disorder | TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACAT... | TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACAT... |
Task1_train_3750 | Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Visceral myopathy 1 | TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAA... | TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAA... |
Task1_train_3751 | This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Visceral myopathy 1 | TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTC... | TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTC... |
Task1_train_3752 | A genetic alteration is present in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Visceral myopathy 1 | TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGA... | TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGA... |
Task1_train_3753 | A variant on Chromosome 2 in gene ACTG2 (actin gamma 2, smooth muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Visceral myopathy 1 | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... |
Task1_train_3754 | Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Visceral neuropathy, familial, 3, autosomal dominant | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... |
Task1_train_3755 | Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... |
Task1_train_3756 | A sequence alteration has been identified in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Visceral myopathy 1 | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... |
Task1_train_3757 | Located on Chromosome 2, this mutation impacts ACTG2 (actin gamma 2, smooth muscle). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... | GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGT... |
Task1_train_3758 | Here is a mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Visceral myopathy 1 | CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTT... | CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTT... |
Task1_train_3759 | Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTT... | CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTT... |
Task1_train_3760 | Consider a variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATT... | CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATT... |
Task1_train_3761 | A mutation in DGUOK, LOC129934096 (deoxyguanosine kinase| ATAC-STARR-seq lymphoblastoid active region 16036), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGG... | GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGG... |
Task1_train_3762 | An alteration has been detected in DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACC... | GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACC... |
Task1_train_3763 | A variant affecting Chromosome 2, within the gene DGUOK (deoxyguanosine kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAG... | GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAG... |
Task1_train_3764 | A variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; DGUOK-related disorder | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... |
Task1_train_3765 | A variant has been detected on Chromosome 2 in DGUOK (deoxyguanosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... |
Task1_train_3766 | The gene DGUOK (deoxyguanosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Portal hypertension, noncirrhotic, 1 | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... |
Task1_train_3767 | This mutation is located in gene DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... |
Task1_train_3768 | This genomic variant is located on Chromosome 2, within the DGUOK (deoxyguanosine kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... | TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGT... |
Task1_train_3769 | Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... |
Task1_train_3770 | Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Portal hypertension, noncirrhotic, 1 | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... |
Task1_train_3771 | Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... | TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTG... |
Task1_train_3772 | Here’s a variant in DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAA... | AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAA... |
Task1_train_3773 | This variant impacts the gene DCTN1 (dynactin subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATC... | GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATC... |
Task1_train_3774 | An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Perry syndrome | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... |
Task1_train_3775 | This genomic variant is located on Chromosome 2, within the DCTN1 (dynactin subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neuronopathy, distal hereditary motor, type 7B | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... |
Task1_train_3776 | Given a variant located on Chromosome 2 and affecting DCTN1 (dynactin subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Amyotrophic lateral sclerosis type 1 | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... |
Task1_train_3777 | An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Perry syndrome | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... | CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAA... |
Task1_train_3778 | This mutation occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neuronopathy, distal hereditary motor, type 7B | AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAA... | AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAA... |
Task1_train_3779 | Gene DCTN1 (dynactin subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Perry syndrome | AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAA... | AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAA... |
Task1_train_3780 | Gene DCTN1 (dynactin subunit 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Perry syndrome | TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACT... | TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACT... |
Task1_train_3781 | A mutation found in DCTN1 (dynactin subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3782 | This is a variant in DCTN1 (dynactin subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Perry syndrome | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3783 | The gene DCTN1 (dynactin subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neuronopathy, distal hereditary motor, type 7B | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3784 | The gene DCTN1 (dynactin subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neuronopathy, distal hereditary motor, type 7B | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3785 | A change on Chromosome 2 affects gene DCTN1 (dynactin subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Amyotrophic lateral sclerosis type 1 | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3786 | The following genetic variant occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Perry syndrome | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... | TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCC... |
Task1_train_3787 | This variant impacts the gene MOGS (mannosyl-oligosaccharide glucosidase) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; MOGS-congenital disorder of glycosylation | CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCC... | CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCC... |
Task1_train_3788 | A variant on Chromosome 2 in gene MOGS (mannosyl-oligosaccharide glucosidase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; MOGS-congenital disorder of glycosylation | CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCC... | CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCC... |
Task1_train_3789 | This is a variant in HTRA2, LOXL3 (HtrA serine peptidase 2| lysyl oxidase like 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGT... | GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGT... |
Task1_train_3790 | An alteration has been detected in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial DNA depletion syndrome 9 | AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTT... | AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTT... |
Task1_train_3791 | This variant affects the gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome 9 | ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGA... | ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGA... |
Task1_train_3792 | Consider this mutation in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial DNA depletion syndrome 9 | ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATT... | ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATT... |
Task1_train_3793 | Located on Chromosome 2, this mutation impacts SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 9 | GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTA... | GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTA... |
Task1_train_3794 | Here is a variant affecting ELMOD3 (ELMO domain containing 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 88 | CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCAC... | CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCAC... |
Task1_train_3795 | A variant has been detected on Chromosome 2 in GGCX (gamma-glutamyl carboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCG... | ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCG... |
Task1_train_3796 | Gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGT... | AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGT... |
Task1_train_3797 | The gene GGCX (gamma-glutamyl carboxylase) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Vitamin K-dependent clotting factors, combined deficiency of, type 1 | CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAA... | CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAA... |
Task1_train_3798 | Consider a variant on Chromosome 2 in gene GGCX (gamma-glutamyl carboxylase). Determine its clinical classification and disease relevance. | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTC... | CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTC... |
Task1_train_3799 | Here is a variant affecting GGCX (gamma-glutamyl carboxylase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATG... | AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATG... |
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