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_25600 | Consider this mutation in GAA (alpha glucosidase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGG... | ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGG... |
Task1_train_25601 | Mutation context: Chromosome 17, Gene GAA (alpha glucosidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glycogen storage disease, type II | AACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAA... | AACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAA... |
Task1_train_25602 | A genetic alteration is present in GAA (alpha glucosidase) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glycogen storage disease, type II | ACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAA... | ACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAA... |
Task1_train_25603 | This variant affects the gene GAA (alpha glucosidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glycogen storage disease, type II | CGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCA... | CGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCA... |
Task1_train_25604 | This mutation is located in gene GAA (alpha glucosidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycogen storage disease, type II | AGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGA... | AGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGA... |
Task1_train_25605 | This mutation is located in gene GAA (alpha glucosidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycogen storage disease, type II | CGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAA... | CGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAA... |
Task1_train_25606 | A change on Chromosome 17 affects gene GAA (alpha glucosidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glycogen storage disease, type II | TCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACT... | TCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACT... |
Task1_train_25607 | Given this variant in gene GAA (alpha glucosidase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease, type II | AGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACT... | AGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACT... |
Task1_train_25608 | This alteration in GAA (alpha glucosidase) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glycogen storage disease, type II | GACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAA... | GACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAA... |
Task1_train_25609 | This sequence variant lies in GAA (alpha glucosidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glycogen storage disease, type II | GGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAG... | GGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAG... |
Task1_train_25610 | A mutation in GAA (alpha glucosidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glycogen storage disease, type II | CCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAAT... | CCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAAT... |
Task1_train_25611 | This genomic variant is located on Chromosome 17, within the GAA (alpha glucosidase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glycogen storage disease, type II | TTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCA... | TTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCA... |
Task1_train_25612 | This variant lies on Chromosome 17 and affects the gene GAA (alpha glucosidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease, type II | TCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAG... | TCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAG... |
Task1_train_25613 | This variant lies on Chromosome 17 and affects the gene GAA (alpha glucosidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease, type II | AAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTC... | AAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTC... |
Task1_train_25614 | The gene GAA (alpha glucosidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycogen storage disease, type II | AAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTC... | AAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTC... |
Task1_train_25615 | A genomic change on Chromosome 17 affects GAA (alpha glucosidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glycogen storage disease, type II | TGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGT... | TGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGT... |
Task1_train_25616 | With a mutation on Chromosome 17 in gene GAA (alpha glucosidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glycogen storage disease, type II | TGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCA... | TGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCA... |
Task1_train_25617 | A sequence alteration has been identified in GAA (alpha glucosidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Glycogen storage disease, type II | CCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGG... | CCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGG... |
Task1_train_25618 | A variant was discovered in gene GAA (alpha glucosidase), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycogen storage disease, type II | AGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCC... | AGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCC... |
Task1_train_25619 | This variant impacts the gene GAA (alpha glucosidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glycogen storage disease, type II | CGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGT... | CGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGT... |
Task1_train_25620 | Consider this mutation in GAA (alpha glucosidase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Glycogen storage disease, type II | TTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACT... | TTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACT... |
Task1_train_25621 | This variant affects the gene GAA (alpha glucosidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glycogen storage disease, type II | AGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTC... | AGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTC... |
Task1_train_25622 | Given a variant located on Chromosome 17 and affecting GAA (alpha glucosidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glycogen storage disease, type II | CATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCT... | CATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCT... |
Task1_train_25623 | Here is a mutation in GAA (alpha glucosidase) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glycogen storage disease, type II | CCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCC... | CCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCC... |
Task1_train_25624 | Chromosome 17 houses a mutation in gene GAA (alpha glucosidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycogen storage disease, type II | TCATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCAC... | TCATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCAC... |
Task1_train_25625 | This variant lies on Chromosome 17 and affects the gene GAA (alpha glucosidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease, type II | CATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACC... | CATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACC... |
Task1_train_25626 | This variant affects gene GAA (alpha glucosidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Glycogen storage disease, type II | TGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTC... | TGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTC... |
Task1_train_25627 | Mutation context: Chromosome 17, Gene GAA (alpha glucosidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glycogen storage disease, type II | GGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCT... | GGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCT... |
Task1_train_25628 | The gene GAA (alpha glucosidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycogen storage disease, type II | CCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAG... | CCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAG... |
Task1_train_25629 | Here is a genetic alteration in GAA (alpha glucosidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glycogen storage disease, type II | GAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGA... | GAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGA... |
Task1_train_25630 | This genomic variant is located on Chromosome 17, within the GAA (alpha glucosidase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glycogen storage disease, type II | GTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGAT... | GTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGAT... |
Task1_train_25631 | The gene GAA (alpha glucosidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycogen storage disease, type II | CCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCA... | CCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCA... |
Task1_train_25632 | The variant affects gene GAA (alpha glucosidase), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease, type II | CCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCA... | CCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCA... |
Task1_train_25633 | Mutation context: Chromosome 17, Gene GAA (alpha glucosidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glycogen storage disease, type II | GGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAG... | GGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAG... |
Task1_train_25634 | Chromosome 17 houses a mutation in gene GAA (alpha glucosidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycogen storage disease, type II | CCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCA... | CCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCA... |
Task1_train_25635 | A mutation in GAA (alpha glucosidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glycogen storage disease, type II | GGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAG... | GGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAG... |
Task1_train_25636 | Here’s a variant in GAA (alpha glucosidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Glycogen storage disease, type II | GGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGA... | GGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGA... |
Task1_train_25637 | Given this variant in gene GAA (alpha glucosidase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease, type II | CTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGA... | CTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGA... |
Task1_train_25638 | This variant lies on Chromosome 17 and affects the gene GAA (alpha glucosidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease, type II | TACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAG... | TACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAG... |
Task1_train_25639 | The following genetic variant occurs in GAA (alpha glucosidase) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTG... | AGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTG... |
Task1_train_25640 | An alteration has been detected in GAA (alpha glucosidase) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Glycogen storage disease, type II | CCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAG... | CCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAG... |
Task1_train_25641 | A mutation in GAA (alpha glucosidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glycogen storage disease, type II | GCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGG... | GCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGG... |
Task1_train_25642 | Chromosome 17 houses a mutation in gene GAA (alpha glucosidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycogen storage disease, type II | TGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGA... | TGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGA... |
Task1_train_25643 | A variant has been detected on Chromosome 17 in GAA (alpha glucosidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Glycogen storage disease, type II | TGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGA... | TGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGA... |
Task1_train_25644 | A variant found in Chromosome 17 affects GAA (alpha glucosidase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glycogen storage disease, type II | GAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCA... | GAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCA... |
Task1_train_25645 | Assess the clinical impact of this variant on gene GAA (alpha glucosidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycogen storage disease, type II | TTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAA... | TTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAA... |
Task1_train_25646 | The gene GAA (alpha glucosidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGA... | CGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGA... |
Task1_train_25647 | Gene EIF4A3 (eukaryotic translation initiation factor 4A3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Richieri Costa-Pereira syndrome | TACAGTTAGTATATATAACAATCAAGATTTAGTAAATGTGTCACAGAAGTGAAGCCAATGAGAGCTTGCACCTTACCTGTGTATGTACAATTCTCTGTTATTAGGGAGATCATAGTTAATGATGAGGGACACCTGAGGGACATCCAACCCCCTGGCCCAGACATCTGTAGAAATAAGCACTCGGCTGCAAAAAGAAAGAGTGTTTGAGGCGATTAAATTACTCATACAAGTGTAAGACTGGACTTGCTTCCATTGCTAATTTTAAGGAATCCTGGCTGCAGGTCCAAAATATACGAGATTCTCCTCTCTCAACAGTCTGT... | TACAGTTAGTATATATAACAATCAAGATTTAGTAAATGTGTCACAGAAGTGAAGCCAATGAGAGCTTGCACCTTACCTGTGTATGTACAATTCTCTGTTATTAGGGAGATCATAGTTAATGATGAGGGACACCTGAGGGACATCCAACCCCCTGGCCCAGACATCTGTAGAAATAAGCACTCGGCTGCAAAAAGAAAGAGTGTTTGAGGCGATTAAATTACTCATACAAGTGTAAGACTGGACTTGCTTCCATTGCTAATTTTAAGGAATCCTGGCTGCAGGTCCAAAATATACGAGATTCTCCTCTCTCAACAGTCTGT... |
Task1_train_25648 | This alteration in CARD14 (caspase recruitment domain family member 14) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Psoriasis 2 | ATTTGTTTGTTTGTTTGTTTGTTTGTGTGTTTGTTTACCGGGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCACAACCTCTGTATCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTGCAGGTGCATACCACCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTTGCCAGGCTGGTCTCGAACTCTTAGGCTTGAGCAATCCTTCCCCCTTCGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCAATACGCCTAGC... | ATTTGTTTGTTTGTTTGTTTGTTTGTGTGTTTGTTTACCGGGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCACAACCTCTGTATCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTGCAGGTGCATACCACCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTTGCCAGGCTGGTCTCGAACTCTTAGGCTTGAGCAATCCTTCCCCCTTCGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCAATACGCCTAGC... |
Task1_train_25649 | This mutation is located in gene CARD14 (caspase recruitment domain family member 14) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pityriasis rubra pilaris | ATTTGTTTGTTTGTTTGTTTGTTTGTGTGTTTGTTTACCGGGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCACAACCTCTGTATCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTGCAGGTGCATACCACCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTTGCCAGGCTGGTCTCGAACTCTTAGGCTTGAGCAATCCTTCCCCCTTCGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCAATACGCCTAGC... | ATTTGTTTGTTTGTTTGTTTGTTTGTGTGTTTGTTTACCGGGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCACAACCTCTGTATCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTGCAGGTGCATACCACCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTTGCCAGGCTGGTCTCGAACTCTTAGGCTTGAGCAATCCTTCCCCCTTCGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCAATACGCCTAGC... |
Task1_train_25650 | Here is a mutation in CARD14 (caspase recruitment domain family member 14) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Papulosquamous eruptions | TCCAGGTGGATGTGTCTTTGAAGGGGAACCACCATTCACACCACTACAGCTGTCTTTGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTG... | TCCAGGTGGATGTGTCTTTGAAGGGGAACCACCATTCACACCACTACAGCTGTCTTTGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTG... |
Task1_train_25651 | A mutation found in CARD14 (caspase recruitment domain family member 14) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Papulosquamous eruptions | GGAACCACCATTCACACCACTACAGCTGTCTTTGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTC... | GGAACCACCATTCACACCACTACAGCTGTCTTTGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTC... |
Task1_train_25652 | A mutation on Chromosome 17 affecting CARD14 (caspase recruitment domain family member 14) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCA... | TGGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCA... |
Task1_train_25653 | A variant found in Chromosome 17 affects CARD14 (caspase recruitment domain family member 14). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PSORIASIS 2, PUSTULAR | GGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCAC... | GGAGTCCATTCTGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCAC... |
Task1_train_25654 | This variant impacts the gene CARD14 (caspase recruitment domain family member 14) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Psoriasis 2 | TGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTG... | TGATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTG... |
Task1_train_25655 | Here is a genetic alteration in CARD14 (caspase recruitment domain family member 14) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Psoriasis 2 | GATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTGT... | GATGGTCTGACTAGTGTTTATTCATTAAAAAATGGGGATGGTAATGGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTGT... |
Task1_train_25656 | The gene CARD14 (caspase recruitment domain family member 14) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Papulosquamous eruptions | GGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTGTGCGCAGCTCCAAAGCTGACAGCACCGTGGTGGGACCCTGCGTCTG... | GGCTTTACTGTATACGGTTGTTAGGAGAAGCAAATGAGTTACTGTTTATAAAACACTCACTGCAAAGCTGGGGCCATAGAAAACAGGCAGTAGGTGGTAGCTGTCAACATGATAATGTTCATGCATGTTGGCGTACGAACCCCAAACACAGGAGAGATTGATGCACGCTGGTCATTCTGGCTGAGAGAGATGGGCTCTGGGCCCTGGGCGTGGAAGGCCCCGAGGCTCTCTGGGACCTGTCACCCGCAGCCCCGGGGTGCCACTCTGCTTTCTGTGCGCAGCTCCAAAGCTGACAGCACCGTGGTGGGACCCTGCGTCTG... |
Task1_train_25657 | Consider this mutation in SGSH (N-sulfoglucosamine sulfohydrolase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | ACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTG... | ACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTG... |
Task1_train_25658 | This variant affects the gene SGSH (N-sulfoglucosamine sulfohydrolase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... |
Task1_train_25659 | Gene SGSH (N-sulfoglucosamine sulfohydrolase), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Sanfilippo syndrome | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... |
Task1_train_25660 | This mutation occurs in SGSH (N-sulfoglucosamine sulfohydrolase) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... | TTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTG... |
Task1_train_25661 | Gene CARD14, SGSH (caspase recruitment domain family member 14| N-sulfoglucosamine sulfohydrolase), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... |
Task1_train_25662 | This alteration occurs within gene CARD14, SGSH (caspase recruitment domain family member 14| N-sulfoglucosamine sulfohydrolase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Sanfilippo syndrome | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... |
Task1_train_25663 | This alteration in CARD14, SGSH (caspase recruitment domain family member 14| N-sulfoglucosamine sulfohydrolase) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... | AAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTA... |
Task1_train_25664 | This variant affects the gene SGSH (N-sulfoglucosamine sulfohydrolase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCC... | TGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCC... |
Task1_train_25665 | A sequence alteration has been identified in SGSH (N-sulfoglucosamine sulfohydrolase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTC... | TGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTC... |
Task1_train_25666 | This gene mutation involves SGSH (N-sulfoglucosamine sulfohydrolase) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | CGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGG... | CGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGG... |
Task1_train_25667 | This variant impacts the gene SGSH (N-sulfoglucosamine sulfohydrolase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | AATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAA... | AATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAA... |
Task1_train_25668 | A variant was discovered on Chromosome 17, affecting SGSH (N-sulfoglucosamine sulfohydrolase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-A | AATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAA... | AATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAA... |
Task1_train_25669 | Assess the clinical impact of this variant on gene SGSH (N-sulfoglucosamine sulfohydrolase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-A | AAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCT... | AAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCT... |
Task1_train_25670 | A mutation on Chromosome 17 affecting SGSH (N-sulfoglucosamine sulfohydrolase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | AATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTA... | AATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTA... |
Task1_train_25671 | Here’s a variant in SGSH (N-sulfoglucosamine sulfohydrolase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGA... | TCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGA... |
Task1_train_25672 | A variant on Chromosome 17 in gene SGSH (N-sulfoglucosamine sulfohydrolase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | CCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAA... | CCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAA... |
Task1_train_25673 | This gene mutation involves SGSH, SLC26A11 (N-sulfoglucosamine sulfohydrolase| solute carrier family 26 member 11) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... |
Task1_train_25674 | Here’s a variant in SGSH, SLC26A11 (N-sulfoglucosamine sulfohydrolase| solute carrier family 26 member 11) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sanfilippo syndrome | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... |
Task1_train_25675 | With a mutation on Chromosome 17 in gene SGSH, SLC26A11 (N-sulfoglucosamine sulfohydrolase| solute carrier family 26 member 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... | TGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAG... |
Task1_train_25676 | This is a variant in LOC130061900, SGSH (ATAC-STARR-seq lymphoblastoid silent region 9102| N-sulfoglucosamine sulfohydrolase), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACA... | TCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACA... |
Task1_train_25677 | A variant affecting Chromosome 17, within the gene LOC130061900, SGSH (ATAC-STARR-seq lymphoblastoid silent region 9102| N-sulfoglucosamine sulfohydrolase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-III-A | TCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACA... | TCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACA... |
Task1_train_25678 | Here’s a variant in LOC130061900, SGSH (ATAC-STARR-seq lymphoblastoid silent region 9102| N-sulfoglucosamine sulfohydrolase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mucopolysaccharidosis, MPS-III-A | CAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAG... | CAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAG... |
Task1_train_25679 | This alteration in RNF213 (ring finger protein 213) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Moyamoya disease 2 | GGGACTCCACAGCCATTGCTTCCAGCGTCACCCCCAGAGGGTTCTCTGCATTGGGGACCTGGCAGAATGATGGCGTCTGGTAGAGAGGCAGGCGGGCGGCTGCTCATTCCCCTCCACTCCTCCACAGATGTAAGTCAAGTGCCCCCATGTGCCAGCCGGGGCACCAGGCACTGGAGGAAACGTGGAACAGCGAGTACAAAGCAGCACTGAGTGACAGATCATGTTGTCAGGGTGGCACCTGGTCCAGCTGGGGCGCTGGGTGGGCGACTGCGTCCTGAGCCCTGGGGAAGCGTGGGGAGAAGGCTCTGCAGCGAGGCAGA... | GGGACTCCACAGCCATTGCTTCCAGCGTCACCCCCAGAGGGTTCTCTGCATTGGGGACCTGGCAGAATGATGGCGTCTGGTAGAGAGGCAGGCGGGCGGCTGCTCATTCCCCTCCACTCCTCCACAGATGTAAGTCAAGTGCCCCCATGTGCCAGCCGGGGCACCAGGCACTGGAGGAAACGTGGAACAGCGAGTACAAAGCAGCACTGAGTGACAGATCATGTTGTCAGGGTGGCACCTGGTCCAGCTGGGGCGCTGGGTGGGCGACTGCGTCCTGAGCCCTGGGGAAGCGTGGGGAGAAGGCTCTGCAGCGAGGCAGA... |
Task1_train_25680 | The variant affects gene RNF213 (ring finger protein 213), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Moyamoya disease 2 | AATGCCACTGGCCTCTTTGGGGTTGATGTTGGTCGTGTGAGCAAGGGGAGGTAGAATTGAAGAGAAAGCCATGCCTCTTGACCCACCCTTCGTTTGCCATCTTGTTTCCCTTAAAAAGAAATAGTAGCTTCTGTTCTGTTGACTTTATCCTATCAACAGTACCTCGTCCTGTTGGGATAAACATTACTCTTCCCCTCCCTGCTGAAGCCTCTCCTTTTGCTGTGACTTTTATTAGCTAGTCACTCAACACATAATGACATTTCAGTCAACAGCAGACCACGTATATGACCACGGTCCCATAAGATTAGAAAACTGTACTT... | AATGCCACTGGCCTCTTTGGGGTTGATGTTGGTCGTGTGAGCAAGGGGAGGTAGAATTGAAGAGAAAGCCATGCCTCTTGACCCACCCTTCGTTTGCCATCTTGTTTCCCTTAAAAAGAAATAGTAGCTTCTGTTCTGTTGACTTTATCCTATCAACAGTACCTCGTCCTGTTGGGATAAACATTACTCTTCCCCTCCCTGCTGAAGCCTCTCCTTTTGCTGTGACTTTTATTAGCTAGTCACTCAACACATAATGACATTTCAGTCAACAGCAGACCACGTATATGACCACGGTCCCATAAGATTAGAAAACTGTACTT... |
Task1_train_25681 | A sequence alteration has been identified in RNF213-AS1, RNF213 (RNF213 antisense RNA 1| ring finger protein 213) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Moyamoya disease 2 | TTTCTGGTTTATTTCCTTCCAGTCAGATCTCTGTGCAGGTAACCACAGCCAAAGACCTTACCTCGTTAGTTTTCCTGCTGGAAGCCTGACTTGTACCCCTACCCAGCCCCCGCTGAAGAGCAGCCCTTGGGACCATTTGAAACAAGAGGCTTGGGGGAAAGCCCTGCCTTCCGCCGTGAGGCTGGCTCCCTCGGCCGGGCAGGAAGTTGTCGACGGAACTGCTGCAGGATGGCACGGGTGGGACTGCGGGCATGGCTGGCTTTTAGTTGTTTTGGATATGTACCTTGAAGGGGAATTCCTGGATCATTTGATAACTCTGT... | TTTCTGGTTTATTTCCTTCCAGTCAGATCTCTGTGCAGGTAACCACAGCCAAAGACCTTACCTCGTTAGTTTTCCTGCTGGAAGCCTGACTTGTACCCCTACCCAGCCCCCGCTGAAGAGCAGCCCTTGGGACCATTTGAAACAAGAGGCTTGGGGGAAAGCCCTGCCTTCCGCCGTGAGGCTGGCTCCCTCGGCCGGGCAGGAAGTTGTCGACGGAACTGCTGCAGGATGGCACGGGTGGGACTGCGGGCATGGCTGGCTTTTAGTTGTTTTGGATATGTACCTTGAAGGGGAATTCCTGGATCATTTGATAACTCTGT... |
Task1_train_25682 | A genetic alteration is present in RNF213, RNF213-AS1 (ring finger protein 213| RNF213 antisense RNA 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Moyamoya disease 2 | GTGTCTTCGAGAGAACTCTGACGTGAAGACGCACGGGCCTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTGAGACCTTAGGTTTGGATCTGTGAAGGCGAGAATTCTGAACCTCTCGTGGTTTTCACTTCTTCTGGCCAGTTTCTCTGCTTCAGAACTGATTGCCCTTCTTGGATTCTAGGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCC... | GTGTCTTCGAGAGAACTCTGACGTGAAGACGCACGGGCCTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTGAGACCTTAGGTTTGGATCTGTGAAGGCGAGAATTCTGAACCTCTCGTGGTTTTCACTTCTTCTGGCCAGTTTCTCTGCTTCAGAACTGATTGCCCTTCTTGGATTCTAGGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCC... |
Task1_train_25683 | The gene RNF213, RNF213-AS1 (ring finger protein 213| RNF213 antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Moyamoya disease 2 | CTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTGAGACCTTAGGTTTGGATCTGTGAAGGCGAGAATTCTGAACCTCTCGTGGTTTTCACTTCTTCTGGCCAGTTTCTCTGCTTCAGAACTGATTGCCCTTCTTGGATTCTAGGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCCTCAGAGCAGATGATATGCCCCTACTGTTTAACTGCCTT... | CTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTGAGACCTTAGGTTTGGATCTGTGAAGGCGAGAATTCTGAACCTCTCGTGGTTTTCACTTCTTCTGGCCAGTTTCTCTGCTTCAGAACTGATTGCCCTTCTTGGATTCTAGGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCCTCAGAGCAGATGATATGCCCCTACTGTTTAACTGCCTT... |
Task1_train_25684 | This sequence change occurs on Chromosome 17, altering NPTX1 (neuronal pentraxin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spinocerebellar ataxia 50 | GAACAACAACGCGCAGCACGGCGCCTGATCTGCACCCCCCTCTGCGGGAGTGATGCATTGCAGAACGGCGGCCGGGTACCGTGCAGACACCCACGAGAACACTGACACAGAGACACTGACAGACACACACAGATGCACTAGGTTCTTGACACAACGTGGACCTGTGTTTAAGGGGACAGGTGGCCCTAGAAGGAACAGAAGACAGAAACACCTGCTCCTCCTGCAGAAATGTCTGCAGCTGCAGCTGAGCCAGGCAGTGCAGTAGAATTTCTAGAAAGACTTGTCAGCGGTTTGCTGATGAGACTCCTGGAGACAGAGTC... | GAACAACAACGCGCAGCACGGCGCCTGATCTGCACCCCCCTCTGCGGGAGTGATGCATTGCAGAACGGCGGCCGGGTACCGTGCAGACACCCACGAGAACACTGACACAGAGACACTGACAGACACACACAGATGCACTAGGTTCTTGACACAACGTGGACCTGTGTTTAAGGGGACAGGTGGCCCTAGAAGGAACAGAAGACAGAAACACCTGCTCCTCCTGCAGAAATGTCTGCAGCTGCAGCTGAGCCAGGCAGTGCAGTAGAATTTCTAGAAAGACTTGTCAGCGGTTTGCTGATGAGACTCCTGGAGACAGAGTC... |
Task1_train_25685 | The variant affects gene NPTX1 (neuronal pentraxin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spinocerebellar ataxia 50 | AAACACGGCTTCTTTCCTTAAAAGGTCCCCTCTGGTCTGCACTGCCGGAGGCCAAAGGAGAGGGGTGCTGGGGCCCGGCTTCCCGGGCTGTGGGTGGCACGCTCCTCTCTCAGGGCCCTCTGGGCTGAAGCAGTGCAGCACAGCTCCAGAGGTGAGAAGGGAGGGGCAGACCCCAGCCTTGCAGGATCTGAGGAGGTGGGAAGGTCGAGGGCAGGGCCGTCCTGGGGCAGAGCTAGCTGAGCTGGGCACACAGGCCGACCTCCCAGGCCCCATGCTGCTCTCAGATGCAAACAGCAGGGATGGATGCTGTCTGGCCCTGG... | AAACACGGCTTCTTTCCTTAAAAGGTCCCCTCTGGTCTGCACTGCCGGAGGCCAAAGGAGAGGGGTGCTGGGGCCCGGCTTCCCGGGCTGTGGGTGGCACGCTCCTCTCTCAGGGCCCTCTGGGCTGAAGCAGTGCAGCACAGCTCCAGAGGTGAGAAGGGAGGGGCAGACCCCAGCCTTGCAGGATCTGAGGAGGTGGGAAGGTCGAGGGCAGGGCCGTCCTGGGGCAGAGCTAGCTGAGCTGGGCACACAGGCCGACCTCCCAGGCCCCATGCTGCTCTCAGATGCAAACAGCAGGGATGGATGCTGTCTGGCCCTGG... |
Task1_train_25686 | A mutation on Chromosome 17 affecting NPTX1 (neuronal pentraxin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spinocerebellar ataxia 50 | CAGGCCAGATGTGCCTCTGACCCACCAATGCCTCTTGGGTGTGAGGCTGGGCAGCTCCCCACCTCCAAGGCCCTTCCTTGGAGCAGGGACTCTGCCTGGAGCTCTGCTGAGAGGGCAGGGCAGCAAGGAGCTGGGAGTACTCTGGGCGCCAGGGCTCCCCAAGGTGACTGCTCTAGGATGCCGCCACACTCTCAGGTGAGTAAGTGTCCTCACAGCTCAGGTTCCAGGCCTGGTGGCCTCCCTTTCCACAAGGCCCACCTTCTCCCTCCCCACCGGCCACTTCTCCCGTAAGCGCCAACCCCCATAGCCCATCTATATAC... | CAGGCCAGATGTGCCTCTGACCCACCAATGCCTCTTGGGTGTGAGGCTGGGCAGCTCCCCACCTCCAAGGCCCTTCCTTGGAGCAGGGACTCTGCCTGGAGCTCTGCTGAGAGGGCAGGGCAGCAAGGAGCTGGGAGTACTCTGGGCGCCAGGGCTCCCCAAGGTGACTGCTCTAGGATGCCGCCACACTCTCAGGTGAGTAAGTGTCCTCACAGCTCAGGTTCCAGGCCTGGTGGCCTCCCTTTCCACAAGGCCCACCTTCTCCCTCCCCACCGGCCACTTCTCCCGTAAGCGCCAACCCCCATAGCCCATCTATATAC... |
Task1_train_25687 | A variant was discovered on Chromosome 17, affecting NDUFAF8, LOC130061928 (NADH:ubiquinone oxidoreductase complex assembly factor 8| ATAC-STARR-seq lymphoblastoid active region 12955). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 34 | GAACCCTTTGCACCACTCTGGGACCCTGCCATCCGCTCTTTCCACTACACGGGGACATCAAGGAAGGATACTAGCAATCTCTTCAAACAGGTAGCCCGGACACGGGACATCATCATCGGACGTCCCCTTCAGGAGAATCGGGAGCTGAAAGGGAACAAGAGCCCCTACCATGATGAGGTGCCATTTCCCACAGGGGTGAATCCGCAGCCCCCCAAAGGGGATGGAAACGACCCACCTCTCACTGTTGACATGGCCGGAGAGAGGACTGGGAAGGGATGAGAACTGTGCTACTGGCCACAGGGAGGCTGCAGCAGGGTCCT... | GAACCCTTTGCACCACTCTGGGACCCTGCCATCCGCTCTTTCCACTACACGGGGACATCAAGGAAGGATACTAGCAATCTCTTCAAACAGGTAGCCCGGACACGGGACATCATCATCGGACGTCCCCTTCAGGAGAATCGGGAGCTGAAAGGGAACAAGAGCCCCTACCATGATGAGGTGCCATTTCCCACAGGGGTGAATCCGCAGCCCCCCAAAGGGGATGGAAACGACCCACCTCTCACTGTTGACATGGCCGGAGAGAGGACTGGGAAGGGATGAGAACTGTGCTACTGGCCACAGGGAGGCTGCAGCAGGGTCCT... |
Task1_train_25688 | An alteration has been detected in LOC130061928, NDUFAF8 (ATAC-STARR-seq lymphoblastoid active region 12955| NADH:ubiquinone oxidoreductase complex assembly factor 8) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial disease | GAACCCTTTGCACCACTCTGGGACCCTGCCATCCGCTCTTTCCACTACACGGGGACATCAAGGAAGGATACTAGCAATCTCTTCAAACAGGTAGCCCGGACACGGGACATCATCATCGGACGTCCCCTTCAGGAGAATCGGGAGCTGAAAGGGAACAAGAGCCCCTACCATGATGAGGTGCCATTTCCCACAGGGGTGAATCCGCAGCCCCCCAAAGGGGATGGAAACGACCCACCTCTCACTGTTGACATGGCCGGAGAGAGGACTGGGAAGGGATGAGAACTGTGCTACTGGCCACAGGGAGGCTGCAGCAGGGTCCT... | GAACCCTTTGCACCACTCTGGGACCCTGCCATCCGCTCTTTCCACTACACGGGGACATCAAGGAAGGATACTAGCAATCTCTTCAAACAGGTAGCCCGGACACGGGACATCATCATCGGACGTCCCCTTCAGGAGAATCGGGAGCTGAAAGGGAACAAGAGCCCCTACCATGATGAGGTGCCATTTCCCACAGGGGTGAATCCGCAGCCCCCCAAAGGGGATGGAAACGACCCACCTCTCACTGTTGACATGGCCGGAGAGAGGACTGGGAAGGGATGAGAACTGTGCTACTGGCCACAGGGAGGCTGCAGCAGGGTCCT... |
Task1_train_25689 | Here is a mutation in ACTG1 (actin gamma 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | CAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGTGAGCCAAGATCACACCATTGGACTCCAGCTTGGGCAACAGAGGGAAACTGCGTTTCAAAAAAAAAAATTTGTAGAGACAAGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCC... | CAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGTGAGCCAAGATCACACCATTGGACTCCAGCTTGGGCAACAGAGGGAAACTGCGTTTCAAAAAAAAAAATTTGTAGAGACAAGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCC... |
Task1_train_25690 | This genomic variant is located on Chromosome 17, within the ACTG1 (actin gamma 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Baraitser-winter syndrome 2 | AGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACA... | AGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACA... |
Task1_train_25691 | Gene ACTG1 (actin gamma 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | AGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACA... | AGGTCTTGCCAAGTTGCCCAGGGAACCTGCACTGGGCAGTTCCGGAAGAGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACA... |
Task1_train_25692 | Given this context: Chromosome 17, gene ACTG1 (actin gamma 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Baraitser-winter syndrome 2 | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... |
Task1_train_25693 | With a mutation on Chromosome 17 in gene ACTG1 (actin gamma 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Baraitser-winter syndrome 2 | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... |
Task1_train_25694 | Given this variant in gene ACTG1 (actin gamma 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... | GAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAA... |
Task1_train_25695 | A variant was discovered on Chromosome 17, affecting ACTG1 (actin gamma 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... |
Task1_train_25696 | This sequence change occurs on Chromosome 17, altering ACTG1 (actin gamma 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Baraitser-winter syndrome 2 | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... |
Task1_train_25697 | A variant has been detected on Chromosome 17 in ACTG1 (actin gamma 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... | AATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATG... |
Task1_train_25698 | Gene ACTG1 (actin gamma 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 20 | CCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGA... | CCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGA... |
Task1_train_25699 | This sequence change occurs on Chromosome 17, altering ACTG1 (actin gamma 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Baraitser-winter syndrome 2 | TGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTC... | TGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTC... |
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