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_16300 | A variant found in Chromosome 11 affects MYO7A (myosin VIIA). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Usher syndrome type 1 | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... |
Task1_train_16301 | Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... |
Task1_train_16302 | This sequence variant lies in MYO7A (myosin VIIA) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... |
Task1_train_16303 | A mutation found in MYO7A (myosin VIIA) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Rare genetic deafness | GTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGG... | GTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGG... |
Task1_train_16304 | The gene MYO7A (myosin VIIA) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGC... | AGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGC... |
Task1_train_16305 | A variant affecting Chromosome 11, within the gene MYO7A (myosin VIIA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGC... | CACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGC... |
Task1_train_16306 | This genomic variant is located on Chromosome 11, within the MYO7A (myosin VIIA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Rare genetic deafness | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... |
Task1_train_16307 | The variant affects gene MYO7A (myosin VIIA), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinal dystrophy | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... |
Task1_train_16308 | Given this variant in gene MYO7A (myosin VIIA) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... |
Task1_train_16309 | The gene MYO7A (myosin VIIA) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Usher syndrome type 1 | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... |
Task1_train_16310 | Here’s a variant in MYO7A (myosin VIIA) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... |
Task1_train_16311 | This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | GCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGC... | GCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGC... |
Task1_train_16312 | This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... |
Task1_train_16313 | The following genetic variant occurs in MYO7A (myosin VIIA) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... |
Task1_train_16314 | A mutation found in MYO7A (myosin VIIA) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Usher syndrome type 1 | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... | CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCC... |
Task1_train_16315 | A variant was discovered in gene MYO7A (myosin VIIA), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Rare genetic deafness | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16316 | Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16317 | The gene MYO7A (myosin VIIA) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Usher syndrome type 1 | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16318 | A genomic change on Chromosome 11 affects MYO7A (myosin VIIA). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16319 | Gene MYO7A (myosin VIIA), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16320 | Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Usher syndrome | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... | GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGG... |
Task1_train_16321 | A genomic change on Chromosome 11 affects MYO7A (myosin VIIA). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... |
Task1_train_16322 | Assess the clinical impact of this variant on gene MYO7A (myosin VIIA), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Usher syndrome type 1 | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... |
Task1_train_16323 | This sequence change occurs on Chromosome 11, altering MYO7A (myosin VIIA). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... | TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACC... |
Task1_train_16324 | Given this context: Chromosome 11, gene MYO7A (myosin VIIA) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Usher syndrome | CTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGC... | CTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGC... |
Task1_train_16325 | This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCC... | GGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCC... |
Task1_train_16326 | This variant affects the gene MYO7A (myosin VIIA) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGC... | CGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGC... |
Task1_train_16327 | This variant impacts the gene MYO7A (myosin VIIA) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCC... | TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCC... |
Task1_train_16328 | Consider a variant on Chromosome 11 in gene MYO7A (myosin VIIA). Determine its clinical classification and disease relevance. | Pathogenic; Usher syndrome type 1B | TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCC... | TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCC... |
Task1_train_16329 | This variant affects the gene MYO7A (myosin VIIA) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Usher syndrome type 2 | CGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACG... | CGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACG... |
Task1_train_16330 | This variant lies on Chromosome 11 and affects the gene MYO7A (myosin VIIA). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Usher syndrome type 2 | TCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGG... | TCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGG... |
Task1_train_16331 | A variant was discovered in gene MYO7A (myosin VIIA), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAG... | ACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAG... |
Task1_train_16332 | A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGA... | TCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGA... |
Task1_train_16333 | A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... |
Task1_train_16334 | An alteration has been detected in MYO7A (myosin VIIA) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... |
Task1_train_16335 | Given this context: Chromosome 11, gene MYO7A (myosin VIIA) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Usher syndrome type 1 | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... |
Task1_train_16336 | Given this variant in gene MYO7A (myosin VIIA) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... | CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCA... |
Task1_train_16337 | Gene MYO7A (myosin VIIA), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Usher syndrome | AGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGT... | AGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGT... |
Task1_train_16338 | A variant has been detected on Chromosome 11 in MYO7A (myosin VIIA). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16339 | A variant affecting Chromosome 11, within the gene MYO7A (myosin VIIA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Usher syndrome type 1 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16340 | This variant impacts the gene MYO7A (myosin VIIA) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16341 | This sequence change occurs on Chromosome 11, altering MYO7A (myosin VIIA). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16342 | This alteration in MYO7A (myosin VIIA) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16343 | Here’s a variant in MYO7A (myosin VIIA) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16344 | This alteration in MYO7A (myosin VIIA) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Usher syndrome type 1 | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... | AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTAC... |
Task1_train_16345 | This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; MYO7A-related disorder | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16346 | This variant lies on Chromosome 11 and affects the gene MYO7A (myosin VIIA). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Usher syndrome | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16347 | This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Usher syndrome type 1 | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16348 | The gene MYO7A (myosin VIIA) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16349 | A variant found in Chromosome 11 affects MYO7A (myosin VIIA). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16350 | Gene MYO7A (myosin VIIA) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16351 | This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Usher syndrome type 1 | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16352 | This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... | GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTT... |
Task1_train_16353 | This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATG... | GACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATG... |
Task1_train_16354 | This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Usher syndrome | GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCC... | GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCC... |
Task1_train_16355 | Assess the clinical impact of this variant on gene MYO7A (myosin VIIA), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCC... | GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCC... |
Task1_train_16356 | A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Usher syndrome | CCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGC... | CCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGC... |
Task1_train_16357 | The variant affects gene MYO7A (myosin VIIA), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Usher syndrome | ATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAG... | ATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAG... |
Task1_train_16358 | Located on Chromosome 11, this mutation impacts MYO7A (myosin VIIA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | GGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAG... | GGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAG... |
Task1_train_16359 | This genomic variant is located on Chromosome 11, within the MYO7A (myosin VIIA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Rare genetic deafness | GTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCC... | GTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCC... |
Task1_train_16360 | Located on Chromosome 11, this mutation impacts MYO7A (myosin VIIA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Usher syndrome | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... |
Task1_train_16361 | Chromosome 11 houses a mutation in gene MYO7A (myosin VIIA). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Usher syndrome type 1 | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... |
Task1_train_16362 | A variant has been detected on Chromosome 11 in MYO7A (myosin VIIA). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 11 | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... |
Task1_train_16363 | With a mutation on Chromosome 11 in gene MYO7A (myosin VIIA), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... | TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGC... |
Task1_train_16364 | This variant affects the gene PAK1 (p21 (RAC1) activated kinase 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual developmental disorder with macrocephaly, seizures, and speech delay | CTCCAGCAAAAGAATCACATGAGGTAATTCACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAA... | CTCCAGCAAAAGAATCACATGAGGTAATTCACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAA... |
Task1_train_16365 | A genetic alteration is present in PAK1 (p21 (RAC1) activated kinase 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; PAK1-related disorder | CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCAT... | CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCAT... |
Task1_train_16366 | A change on Chromosome 11 affects gene PAK1 (p21 (RAC1) activated kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; PAK1-related neurodevelopmental disorders | CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCAT... | CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCAT... |
Task1_train_16367 | Gene NDUFC2, NDUFC2-KCTD14 (NADH:ubiquinone oxidoreductase subunit C2| NDUFC2-KCTD14 readthrough) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial disease | AAAAAAGAAACTGTATCTTTCTGATCCACCATAAATATCATATATGTGACTGAAGGCTGTGGGAATATTAAAGAGTAATAAAATTTTAGAGCTAAATAAGACCTTAGAGATCATTCAGTGTAATGAAATTTAAATGTTTTATATCACGCATTTACATTAACAGAAGAATTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTCACCTAGGCTGGAATGCAGTGGTGTGATCACGGCTCACGGCACCTTGTCCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTCAATGGGTCTATAGGCATGTG... | AAAAAAGAAACTGTATCTTTCTGATCCACCATAAATATCATATATGTGACTGAAGGCTGTGGGAATATTAAAGAGTAATAAAATTTTAGAGCTAAATAAGACCTTAGAGATCATTCAGTGTAATGAAATTTAAATGTTTTATATCACGCATTTACATTAACAGAAGAATTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTCACCTAGGCTGGAATGCAGTGGTGTGATCACGGCTCACGGCACCTTGTCCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTCAATGGGTCTATAGGCATGTG... |
Task1_train_16368 | This variant affects the gene ALG8 (ALG8 alpha-1,3-glucosyltransferase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; ALG8 congenital disorder of glycosylation | AGGCTAGGAGGGTTAAATAACTTGCCTTCAGTTAATGGTTCTCAAGCCTGATGGTGTATCAAAATTCCTTAGAGAGTCTTAAGCCCCATTCCCAGAGACTTCGATTCCATGTACAAAGGGATGGCCCCAAAATCTGAATTTCTGATTTCCTCCTCTATAGGAGGAATAATAATTCTAACAACTTCACAGAATGGTTCTGAAGTTTACTCAATAAGATATATGTAAGCCAGGTGTGGTGGCACACATCTGTAATCCCAGAGACTCAGAAGCAGAGGTAGGAGGATTGTTCAAGGCCAGGAGTTCAAGACCTGTCTCTAATC... | AGGCTAGGAGGGTTAAATAACTTGCCTTCAGTTAATGGTTCTCAAGCCTGATGGTGTATCAAAATTCCTTAGAGAGTCTTAAGCCCCATTCCCAGAGACTTCGATTCCATGTACAAAGGGATGGCCCCAAAATCTGAATTTCTGATTTCCTCCTCTATAGGAGGAATAATAATTCTAACAACTTCACAGAATGGTTCTGAAGTTTACTCAATAAGATATATGTAAGCCAGGTGTGGTGGCACACATCTGTAATCCCAGAGACTCAGAAGCAGAGGTAGGAGGATTGTTCAAGGCCAGGAGTTCAAGACCTGTCTCTAATC... |
Task1_train_16369 | A variant found in Chromosome 11 affects ALG8 (ALG8 alpha-1,3-glucosyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ALG8 congenital disorder of glycosylation | CAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATATCTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCT... | CAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATATCTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCT... |
Task1_train_16370 | Gene ALG8 (ALG8 alpha-1,3-glucosyltransferase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; ALG8 congenital disorder of glycosylation | TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGC... | TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGC... |
Task1_train_16371 | Here is a genetic alteration in ALG8 (ALG8 alpha-1,3-glucosyltransferase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Polycystic liver disease 3 with or without kidney cysts | TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGC... | TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGC... |
Task1_train_16372 | This variant affects the gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 24 | ACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAAAGAAAAGCACTATTATTACTAGTTAAGGTTGTTGGGAGGCACACACAGACAAGGGACACAGAGATATAACTTTCATTCTTCAACATTAAAACAATAATATAGATTCTGAGGCTGCCTTCATAATATGGTTGCACATTGATTCTTGTTTGAGAACTATTAATAAAATTTTAAATTCTTAGTGGTAATTGAAATTCAACTCAGCCCTTTAAAAAATGTGTTTTGGACCACAGTGCATCTAATGTGACCAGGAATATGAAAAATTCAAATATACAAAAATACAGAA... | ACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAAAGAAAAGCACTATTATTACTAGTTAAGGTTGTTGGGAGGCACACACAGACAAGGGACACAGAGATATAACTTTCATTCTTCAACATTAAAACAATAATATAGATTCTGAGGCTGCCTTCATAATATGGTTGCACATTGATTCTTGTTTGAGAACTATTAATAAAATTTTAAATTCTTAGTGGTAATTGAAATTCAACTCAGCCCTTTAAAAAATGTGTTTTGGACCACAGTGCATCTAATGTGACCAGGAATATGAAAAATTCAAATATACAAAAATACAGAA... |
Task1_train_16373 | With a mutation on Chromosome 11 in gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Combined oxidative phosphorylation defect type 24 | TATGGTAAAATATAATTGTAGAACAAAGATTAATAAAGAATTAGGGGATGGGCTCAAGTGAAAGCTACTTAAGGAATGCCACTGACTCCTTCTGAAGCTCAGATCCTGAATCCCTACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAA... | TATGGTAAAATATAATTGTAGAACAAAGATTAATAAAGAATTAGGGGATGGGCTCAAGTGAAAGCTACTTAAGGAATGCCACTGACTCCTTCTGAAGCTCAGATCCTGAATCCCTACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAA... |
Task1_train_16374 | This variant affects gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Combined oxidative phosphorylation defect type 24 | ACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGA... | ACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGA... |
Task1_train_16375 | Gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Combined oxidative phosphorylation defect type 24 | ATGAATACTAAAAGGCTGTTAAGAAAGGTTATCCAAACCTTGAATATAAGGCCAAAAGCTGTAGCCTTAAAAAGGTGATGTCCTTTCAAGGTATTACACAATGAGGGGACAAAGGCCCATTCGACGATTACTTAATTACTTAGGGAAAGGGAAATGTACTTGTTCCATTAGTCTATTTAATATTGAATTAAATAACCCGTATTAAGTGAAGTTACACGCTAATTTACAGATCTTTCCCAGCAGAGTTGCAAATAACTCTACCAGGTAGAAGAGATAATCCCAAAGTTTAGGGTGTGTTGGTCCTGTAGGACATTAACCAG... | ATGAATACTAAAAGGCTGTTAAGAAAGGTTATCCAAACCTTGAATATAAGGCCAAAAGCTGTAGCCTTAAAAAGGTGATGTCCTTTCAAGGTATTACACAATGAGGGGACAAAGGCCCATTCGACGATTACTTAATTACTTAGGGAAAGGGAAATGTACTTGTTCCATTAGTCTATTTAATATTGAATTAAATAACCCGTATTAAGTGAAGTTACACGCTAATTTACAGATCTTTCCCAGCAGAGTTGCAAATAACTCTACCAGGTAGAAGAGATAATCCCAAAGTTTAGGGTGTGTTGGTCCTGTAGGACATTAACCAG... |
Task1_train_16376 | The following genetic variant occurs in NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined oxidative phosphorylation defect type 24 | CAGCTGAAACCTGAGCTAGATCCTGACTGTAGGAGCCTAGGATCAATGAATTCAAGAGTTTCTCTTTCTGATATTCTGCATGGGCAAATTCAATCCCACAAATTCCTTTCCCTGGCTCTGAAATAATATGAACATAGTACACTTCTCATTTGTTTAGCTTCAGAAATACATTTTTTTCCTCTTCCTATTTATTCACACTTATCTGATAATTTGTCTTAGGTTATTTAGAGGTCAAGATATATATATAAAATATGTATATATATCATATATATCTTATATTATATATATATATCTCTCTTATATTTTATATATATACAATC... | CAGCTGAAACCTGAGCTAGATCCTGACTGTAGGAGCCTAGGATCAATGAATTCAAGAGTTTCTCTTTCTGATATTCTGCATGGGCAAATTCAATCCCACAAATTCCTTTCCCTGGCTCTGAAATAATATGAACATAGTACACTTCTCATTTGTTTAGCTTCAGAAATACATTTTTTTCCTCTTCCTATTTATTCACACTTATCTGATAATTTGTCTTAGGTTATTTAGAGGTCAAGATATATATATAAAATATGTATATATATCATATATATCTTATATTATATATATATATCTCTCTTATATTTTATATATATACAATC... |
Task1_train_16377 | Given this variant in gene TENM4 (teneurin transmembrane protein 4) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GGGAGGGCAGCAGGGCAGCACTGAGAAAGCCCAAGCTCTGGCATCAGACTTGGACTGCGATCCCTGTTCTGCCATGTCTCACTATCAAACAGTGGGCAAAGGAGCCTTCAGAGCCTCAGTTTCTATGTCTGTAAAATGGATAATATCACCCATCCTCAGAGCTGTTGTGCAGATTAAATGCAGTGGTGTAGCTCCTAGCCCACAGCTAATACTCAACAAGGCTAGTTCCTTCCCCACCTCTCACATGCTTATCTAATGGTGACATATTCAGCAATCTCAGTCGTGTGAACCATGGCTAAGACCTCAAAAAGCAGCTTAAA... | GGGAGGGCAGCAGGGCAGCACTGAGAAAGCCCAAGCTCTGGCATCAGACTTGGACTGCGATCCCTGTTCTGCCATGTCTCACTATCAAACAGTGGGCAAAGGAGCCTTCAGAGCCTCAGTTTCTATGTCTGTAAAATGGATAATATCACCCATCCTCAGAGCTGTTGTGCAGATTAAATGCAGTGGTGTAGCTCCTAGCCCACAGCTAATACTCAACAAGGCTAGTTCCTTCCCCACCTCTCACATGCTTATCTAATGGTGACATATTCAGCAATCTCAGTCGTGTGAACCATGGCTAAGACCTCAAAAAGCAGCTTAAA... |
Task1_train_16378 | Assess the clinical impact of this variant on gene TENM4 (teneurin transmembrane protein 4), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Tremor, hereditary essential, 5 | TGTGCTCTCCCTTGCTTACCTCCCTGCTCCCCATGGGGCAGCGGAGTAGAGAGGAAGCTCTGAGAATGAAAGCCAGTGACACCTGCGCAAATGTGTCTGTAAAATAGATGCCAGTATTGGAGAGTTTGGTTAAAGAAAATCCCATGCTGACATTCAGACAAAGGTAGTGAGGGCCTTTAGAGATTTCAGTCCAGGATTTCTGAATCTAAGTGTGGGTTTTAGCATTTTTTTCCCCCTCCGCCATATGCCAGTTGTCTTCCAAGCCTTTGATCCGGCTGCTTGGCAGTACCTCTATCTAAAGTTAAACAATTTTCCGATGT... | TGTGCTCTCCCTTGCTTACCTCCCTGCTCCCCATGGGGCAGCGGAGTAGAGAGGAAGCTCTGAGAATGAAAGCCAGTGACACCTGCGCAAATGTGTCTGTAAAATAGATGCCAGTATTGGAGAGTTTGGTTAAAGAAAATCCCATGCTGACATTCAGACAAAGGTAGTGAGGGCCTTTAGAGATTTCAGTCCAGGATTTCTGAATCTAAGTGTGGGTTTTAGCATTTTTTTCCCCCTCCGCCATATGCCAGTTGTCTTCCAAGCCTTTGATCCGGCTGCTTGGCAGTACCTCTATCTAAAGTTAAACAATTTTCCGATGT... |
Task1_train_16379 | A variant on Chromosome 11 in gene TENM4 (teneurin transmembrane protein 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tremor, hereditary essential, 5 | GAAACCACTTCTGACTCCTTTCCGTCATTGTAAAAAGCCAAGTGCCAGATTCCTGAATCCAAATACTGGATGAAGCCTGTCTCATGGCTGGAGGGGGGCACAGTTCCCCGAGACTGGCGCGGGGTCCCCTCTAGGCTCCGCGCCTCCTGGGTTAGGAGCCTCCTGCCATCCAGCAGCTCCACAAAGTCAAACTGAAAGACAGAGAAAGCACAGTTAGCAGTGGGTCTGTTCCACCACGCACCAGCGTCCTTCCCGGGGCTTCTCCTGGAGAGGACATTGGGAAACACAAATAGAGGCAAAAAGGGCCCAAAGAGGCTAAG... | GAAACCACTTCTGACTCCTTTCCGTCATTGTAAAAAGCCAAGTGCCAGATTCCTGAATCCAAATACTGGATGAAGCCTGTCTCATGGCTGGAGGGGGGCACAGTTCCCCGAGACTGGCGCGGGGTCCCCTCTAGGCTCCGCGCCTCCTGGGTTAGGAGCCTCCTGCCATCCAGCAGCTCCACAAAGTCAAACTGAAAGACAGAGAAAGCACAGTTAGCAGTGGGTCTGTTCCACCACGCACCAGCGTCCTTCCCGGGGCTTCTCCTGGAGAGGACATTGGGAAACACAAATAGAGGCAAAAAGGGCCCAAAGAGGCTAAG... |
Task1_train_16380 | This alteration occurs within gene TMEM126B (transmembrane protein 126B) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 29 | AGTATCCAAAAGTATTGCTAAAACTTTTGTGCAGTAAATGTATTTTAATTAAAAGTAATTAGGAGAAAACCATTGAGGGGGGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCA... | AGTATCCAAAAGTATTGCTAAAACTTTTGTGCAGTAAATGTATTTTAATTAAAAGTAATTAGGAGAAAACCATTGAGGGGGGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCA... |
Task1_train_16381 | This sequence variant lies in EED (embryonic ectoderm development) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cohen-Gibson syndrome | AAAAGAAAAGAATCCATTGTGGGATGGATGTGCTGGTTGGGTGCAGATGTCTATAGAGATAGGAGCATTAGAAATCTAGTAATAGAAAATATTAGCAAAGACTGATTAAAACCTCCTTTTTCTTTGACCTTGCCTAGAATATATCATTTCATTGTAGTTATAATGATGAACTTGGCTTGTGACTGGTAGTCATTCTAAGTATTTGATCAACGAAGCCTAGGAAGAAAAAAAAAGTTTAGGAAAAATAAAATATATAAAAATAAAATAAAATAGGAAATAAAAATTGCAAAACAGGTTCATAAAGAAACAGAAAAATTTGA... | AAAAGAAAAGAATCCATTGTGGGATGGATGTGCTGGTTGGGTGCAGATGTCTATAGAGATAGGAGCATTAGAAATCTAGTAATAGAAAATATTAGCAAAGACTGATTAAAACCTCCTTTTTCTTTGACCTTGCCTAGAATATATCATTTCATTGTAGTTATAATGATGAACTTGGCTTGTGACTGGTAGTCATTCTAAGTATTTGATCAACGAAGCCTAGGAAGAAAAAAAAAGTTTAGGAAAAATAAAATATATAAAAATAAAATAAAATAGGAAATAAAAATTGCAAAACAGGTTCATAAAGAAACAGAAAAATTTGA... |
Task1_train_16382 | Gene EED (embryonic ectoderm development) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cohen-Gibson syndrome | TTACATGGCCAGGCTGAGAGTTTATAAATGTTTCTGTTTTGCTTTCCTTTTTAATTACAAATTTCACCTTTAGATCATTTCTCATTTTATGATAAGCAGCCAGAAGAAGCCATGCATCACTGTGAATGCTTTGATGCTCAGATATTTCTTCTGCCAGGTATTGGATTCATTGCTCTTAACTTCTGCCTTCCACAAAGTCCTAGGGCATGGACACAGTCCTGCTAAGTTCTTCACAACTGTATTGCAAGGATGGCTTTTATTTATTTATTTAATTTATTTTTTTGAGGCAAGGTCTCATTCTTGTCACCCAGGCTGGAGTG... | TTACATGGCCAGGCTGAGAGTTTATAAATGTTTCTGTTTTGCTTTCCTTTTTAATTACAAATTTCACCTTTAGATCATTTCTCATTTTATGATAAGCAGCCAGAAGAAGCCATGCATCACTGTGAATGCTTTGATGCTCAGATATTTCTTCTGCCAGGTATTGGATTCATTGCTCTTAACTTCTGCCTTCCACAAAGTCCTAGGGCATGGACACAGTCCTGCTAAGTTCTTCACAACTGTATTGCAAGGATGGCTTTTATTTATTTATTTAATTTATTTTTTTGAGGCAAGGTCTCATTCTTGTCACCCAGGCTGGAGTG... |
Task1_train_16383 | This gene mutation involves EED (embryonic ectoderm development) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cohen-Gibson syndrome | ACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGA... | ACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGA... |
Task1_train_16384 | Consider a variant on Chromosome 11 in gene EED (embryonic ectoderm development). Determine its clinical classification and disease relevance. | Pathogenic; Cohen-Gibson syndrome | GCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATAT... | GCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATAT... |
Task1_train_16385 | A genomic change on Chromosome 11 affects EED (embryonic ectoderm development). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cohen-Gibson syndrome | ACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTT... | ACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTT... |
Task1_train_16386 | A variant has been detected on Chromosome 11 in HIKESHI (heat shock protein nuclear import factor hikeshi). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; HIKESHI-related disorder | TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTA... | TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTA... |
Task1_train_16387 | Given this context: Chromosome 11, gene HIKESHI (heat shock protein nuclear import factor hikeshi) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypomyelinating leukodystrophy 13 | TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTA... | TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTA... |
Task1_train_16388 | Given this variant in gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Exudative vitreoretinopathy, digenic | GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAG... | GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAG... |
Task1_train_16389 | This gene mutation involves FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Exudative vitreoretinopathy 1 | GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAG... | GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAG... |
Task1_train_16390 | A variant has been detected on Chromosome 11 in FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAA... | TGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAA... |
Task1_train_16391 | This variant affects gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Exudative vitreoretinopathy 1 | CAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCA... | CAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCA... |
Task1_train_16392 | Given a variant located on Chromosome 11 and affecting FZD4, PRSS23 (frizzled class receptor 4| serine protease 23), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTG... | TTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTG... |
Task1_train_16393 | Gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTC... | ACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTC... |
Task1_train_16394 | Mutation context: Chromosome 11, Gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Exudative vitreoretinopathy 1 | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... |
Task1_train_16395 | A change on Chromosome 11 affects gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... |
Task1_train_16396 | Here is a variant affecting FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Atrophia bulborum hereditaria | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... |
Task1_train_16397 | A variant on Chromosome 11 in gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial exudative vitreoretinopathy | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... | GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTG... |
Task1_train_16398 | Here is a variant affecting FZD4 (frizzled class receptor 4) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCT... | GGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCT... |
Task1_train_16399 | This variant lies on Chromosome 11 and affects the gene FZD4 (frizzled class receptor 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Exudative vitreoretinopathy 1 | TTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTG... | TTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTG... |
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