ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_31300 | This is a variant in F9 (coagulation factor IX), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | AGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATA... | AGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATA... |
Task1_train_31301 | This is a variant in F9 (coagulation factor IX), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor IX deficiency disease | CTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATG... | CTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATG... |
Task1_train_31302 | This alteration occurs within gene F9 (coagulation factor IX) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary factor IX deficiency disease | GATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGA... | GATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGA... |
Task1_train_31303 | Here’s a variant in F9 (coagulation factor IX) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary factor IX deficiency disease | GGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAA... | GGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAA... |
Task1_train_31304 | A genetic alteration is present in F9 (coagulation factor IX) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor IX deficiency disease | GGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAA... | GGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAA... |
Task1_train_31305 | A change on Chromosome X affects gene F9 (coagulation factor IX). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | TCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATC... | TCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATC... |
Task1_train_31306 | The gene F9 (coagulation factor IX) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary factor IX deficiency disease | CGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCA... | CGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCA... |
Task1_train_31307 | Here is a mutation in F9 (coagulation factor IX) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary factor IX deficiency disease | GATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCAGTAGTTTTTCTCTTTTGAGTAACATGTAGCAA... | GATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCAGTAGTTTTTCTCTTTTGAGTAACATGTAGCAA... |
Task1_train_31308 | A variant was discovered in gene F9 (coagulation factor IX), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | ATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCAGTAGTTTTTCTCTTTTGAGTAACATGTAGCAAAAAA... | ATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCAGTAGTTTTTCTCTTTTGAGTAACATGTAGCAAAAAA... |
Task1_train_31309 | A genomic change on Chromosome X affects FMR1 (fragile X messenger ribonucleoprotein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fragile X syndrome | CAGTAGGGGACTCTGTTCTTCACCTTATTCAAAACAACTCCATTTCAGTAGAACAGAATCACAGTAAATTGCTCTTTGGGATTTGGAAATAAGTGTAATGTAGAATTGGATTATTTGCTATTAAATATTAAAAGTAGATTCTACCTGTGGTTACCTGGAAAGAAGAGGATCTCAGAAATAACCAGAAAGACTGCTAAAAGTAAATCAGCCTTGTTTTTGTTTTGTTGTTTCTAGTTAGTAAAATGAGATAATTCTGTTTTAGAGATGGTCCACTGCAACACTGGGAACGTTGGAACTTTTCAGAAAGCATTTTTGTGTAA... | CAGTAGGGGACTCTGTTCTTCACCTTATTCAAAACAACTCCATTTCAGTAGAACAGAATCACAGTAAATTGCTCTTTGGGATTTGGAAATAAGTGTAATGTAGAATTGGATTATTTGCTATTAAATATTAAAAGTAGATTCTACCTGTGGTTACCTGGAAAGAAGAGGATCTCAGAAATAACCAGAAAGACTGCTAAAAGTAAATCAGCCTTGTTTTTGTTTTGTTGTTTCTAGTTAGTAAAATGAGATAATTCTGTTTTAGAGATGGTCCACTGCAACACTGGGAACGTTGGAACTTTTCAGAAAGCATTTTTGTGTAA... |
Task1_train_31310 | Assess the clinical impact of this variant on gene AFF2 (ALF transcription elongation factor 2), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; FRAXE | AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATGAAAGTAAAATACAAATTTCATTTTATGGTAAAAGTGCAACGTGAATCATTAAGTAATTTTCTTTTAATTATTCACGAAAAAGTTATTTAGGGAAAAAAACATGATTTATGTTTTATTATATGCTATTTTACTTCCCATAGAAGTTTATTTCAATGAAATCTGAAAGTCAATGGAGAATTTACGAGCATTCACTTTAAAGTCAGTGTTTTTAAACTTTATTTTGAGGTAATTGTAGTTGCACATGCAGTTGTAAGAACTAATACAGAGAGTTCCTGTGTA... | AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATGAAAGTAAAATACAAATTTCATTTTATGGTAAAAGTGCAACGTGAATCATTAAGTAATTTTCTTTTAATTATTCACGAAAAAGTTATTTAGGGAAAAAAACATGATTTATGTTTTATTATATGCTATTTTACTTCCCATAGAAGTTTATTTCAATGAAATCTGAAAGTCAATGGAGAATTTACGAGCATTCACTTTAAAGTCAGTGTTTTTAAACTTTATTTTGAGGTAATTGTAGTTGCACATGCAGTTGTAAGAACTAATACAGAGAGTTCCTGTGTA... |
Task1_train_31311 | Consider a variant on Chromosome X in gene IDS (iduronate 2-sulfatase). Determine its clinical classification and disease relevance. | Pathogenic; Mucopolysaccharidosis, MPS-II | TGGGTTTTAACAAGCCCCTCAAGTAGTTCTGATGCTCCCTCATGTTTGTGAGCCACTGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACA... | TGGGTTTTAACAAGCCCCTCAAGTAGTTCTGATGCTCCCTCATGTTTGTGAGCCACTGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACA... |
Task1_train_31312 | Mutation context: Chromosome X, Gene IDS (iduronate 2-sulfatase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-II | TGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAA... | TGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAA... |
Task1_train_31313 | A variant was discovered on Chromosome X, affecting IDS (iduronate 2-sulfatase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-II | CTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGA... | CTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGA... |
Task1_train_31314 | Assess the clinical impact of this variant on gene IDS (iduronate 2-sulfatase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-II | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... |
Task1_train_31315 | Given this context: Chromosome X, gene IDS (iduronate 2-sulfatase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-II | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... |
Task1_train_31316 | This is a variant in IDS (iduronate 2-sulfatase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-II | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... |
Task1_train_31317 | This variant impacts the gene IDS (iduronate 2-sulfatase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-II | AGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTC... | AGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTC... |
Task1_train_31318 | This mutation occurs in IDS (iduronate 2-sulfatase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | GAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCAT... | GAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCAT... |
Task1_train_31319 | This alteration occurs within gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis, MPS-II | GGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAA... | GGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAA... |
Task1_train_31320 | This alteration occurs within gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis, MPS-II | GTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCA... | GTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCA... |
Task1_train_31321 | A variant affecting Chromosome X, within the gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-II | TCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCAC... | TCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCAC... |
Task1_train_31322 | Mutation context: Chromosome X, Gene LOC106050102, IDS (IDS recombination region| iduronate 2-sulfatase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-II | CAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACA... | CAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACA... |
Task1_train_31323 | This is a variant in IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-II | AAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAA... | AAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAA... |
Task1_train_31324 | A genomic change on Chromosome X affects IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-II | TGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAG... | TGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAG... |
Task1_train_31325 | This variant impacts the gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-II | TGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGT... | TGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGT... |
Task1_train_31326 | This mutation is located in gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-II | GACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGT... | GACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGT... |
Task1_train_31327 | Given this context: Chromosome X, gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-II | TCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTG... | TCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTG... |
Task1_train_31328 | Given this context: Chromosome X, gene LOC106050102, IDS (IDS recombination region| iduronate 2-sulfatase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-II | TCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTG... | TCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTG... |
Task1_train_31329 | A variant has been detected on Chromosome X in LOC106050102, IDS (IDS recombination region| iduronate 2-sulfatase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mucopolysaccharidosis, MPS-II | CGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTAC... | CGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTAC... |
Task1_train_31330 | A genomic change on Chromosome X affects IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-II | CAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGC... | CAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGC... |
Task1_train_31331 | Given this context: Chromosome X, gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-II | GGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGT... | GGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGT... |
Task1_train_31332 | A variant was discovered on Chromosome X, affecting IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-II | CTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCT... | CTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCT... |
Task1_train_31333 | A variant affecting Chromosome X, within the gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-II | CACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCT... | CACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCT... |
Task1_train_31334 | This mutation occurs in IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | GATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGG... | GATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGG... |
Task1_train_31335 | Here is a mutation in IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-II | CCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAG... | CCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAG... |
Task1_train_31336 | This variant lies on Chromosome X and affects the gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-II | AAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGA... | AAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGA... |
Task1_train_31337 | This alteration in IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | TAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTG... | TAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTG... |
Task1_train_31338 | This variant lies on Chromosome X and affects the gene LOC106050102, IDS (IDS recombination region| iduronate 2-sulfatase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-II | TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGG... | TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGG... |
Task1_train_31339 | Given this context: Chromosome X, gene IDS, LOC106050102 (iduronate 2-sulfatase| IDS recombination region) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-II | CAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGA... | CAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGA... |
Task1_train_31340 | A genetic alteration is present in IDS (iduronate 2-sulfatase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-II | GGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTC... | GGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTC... |
Task1_train_31341 | The gene IDS (iduronate 2-sulfatase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-II | GGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCG... | GGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCG... |
Task1_train_31342 | Consider this mutation in IDS (iduronate 2-sulfatase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-II | ACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAA... | ACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAA... |
Task1_train_31343 | Given a variant located on Chromosome X and affecting IDS (iduronate 2-sulfatase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-II | TCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAG... | TCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAG... |
Task1_train_31344 | Mutation context: Chromosome X, Gene IDS (iduronate 2-sulfatase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-II | GGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGG... | GGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGG... |
Task1_train_31345 | Gene IDS (iduronate 2-sulfatase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | GGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGA... | GGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGA... |
Task1_train_31346 | Gene IDS (iduronate 2-sulfatase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-II | GAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTAT... | GAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTAT... |
Task1_train_31347 | The gene IDS (iduronate 2-sulfatase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-II | GCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAG... | GCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAG... |
Task1_train_31348 | A variant on Chromosome X in gene IDS (iduronate 2-sulfatase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... |
Task1_train_31349 | The gene IDS (iduronate 2-sulfatase), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis, MPS-II | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... |
Task1_train_31350 | Consider this mutation in IDS (iduronate 2-sulfatase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-II | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... | CCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGAT... |
Task1_train_31351 | This variant impacts the gene IDS (iduronate 2-sulfatase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-II | TATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAG... | TATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAG... |
Task1_train_31352 | A variant on Chromosome X in gene IDS (iduronate 2-sulfatase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis, MPS-II | GCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTG... | GCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTG... |
Task1_train_31353 | Here is a mutation in IDS (iduronate 2-sulfatase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-II | TGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAG... | TGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAG... |
Task1_train_31354 | A mutation in IDS (iduronate 2-sulfatase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mucopolysaccharidosis, MPS-II | AAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCT... | AAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCT... |
Task1_train_31355 | Here is a variant affecting IDS (iduronate 2-sulfatase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mucopolysaccharidosis, MPS-II | CCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAG... | CCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAG... |
Task1_train_31356 | The gene IDS (iduronate 2-sulfatase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-II | GTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGC... | GTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGC... |
Task1_train_31357 | A variant found in Chromosome X affects IDS (iduronate 2-sulfatase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mucopolysaccharidosis, MPS-II | GCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAG... | GCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAG... |
Task1_train_31358 | This alteration in IDS (iduronate 2-sulfatase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | GAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGC... | GAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGC... |
Task1_train_31359 | Gene IDS, LOC130068781 (iduronate 2-sulfatase| ATAC-STARR-seq lymphoblastoid active region 30015) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-II | TCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGT... | TCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGT... |
Task1_train_31360 | Gene MTM1 (myotubularin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Severe X-linked myotubular myopathy | ACTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATA... | ACTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATA... |
Task1_train_31361 | A variant on Chromosome X in gene MTM1 (myotubularin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe X-linked myotubular myopathy | ACTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATA... | ACTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATA... |
Task1_train_31362 | Given a variant located on Chromosome X and affecting MTM1 (myotubularin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | CTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATAT... | CTTGAAAAGGGTGAACTGTATGGTATGTGAGTTGTAGTAAAACAGTTAAATGAAGGGAAAATGAGGGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATAT... |
Task1_train_31363 | With a mutation on Chromosome X in gene MTM1 (myotubularin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | GGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTA... | GGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTA... |
Task1_train_31364 | Consider a variant on Chromosome X in gene MTM1 (myotubularin 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGAT... | TGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGAT... |
Task1_train_31365 | Gene MTM1 (myotubularin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Severe X-linked myotubular myopathy | AGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAA... | AGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAA... |
Task1_train_31366 | A variant was discovered on Chromosome X, affecting MTM1 (myotubularin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Centronuclear myopathy | AGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAA... | AGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAA... |
Task1_train_31367 | Given this context: Chromosome X, gene MTM1 (myotubularin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe X-linked myotubular myopathy | CTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGG... | CTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGG... |
Task1_train_31368 | This sequence variant lies in MTM1 (myotubularin 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Severe X-linked myotubular myopathy | ATGCATCTGTGGTCTCAGCTACTCCCAGCTACTCAGGAGGCTGATGTGGGAGGATCACTCGAGCCCAGGAGTTTGCGACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG... | ATGCATCTGTGGTCTCAGCTACTCCCAGCTACTCAGGAGGCTGATGTGGGAGGATCACTCGAGCCCAGGAGTTTGCGACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG... |
Task1_train_31369 | With a mutation on Chromosome X in gene MTM1 (myotubularin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTCTGTCTTTAATTTAAACTTAACAGAAATCACTTATTTTTCCCAGTGGTACTGAATAATTATGCATTGCTGTGGATTCAGTGTCAGGTTAAAGCCTCAGTGCATCGCTTAGCTAGGTCAGCATCATTACCAGTGTGTGCTTATCATGCCAGCCATCCAGAATAAACAGCACTTGGGCCTAGCGCTGCCAGAGTTGAGACCTGCAGAGTGTGCTGCATGCCTGGGAAAGTTTGAGAAGACATTGTGGAGAGCATGTTCTTGGGCAGTTTTCACCTTAAACCTCTTGCCATTCACATGCAGAAAACTGTTGCTGCTGAAAG... | CTCTGTCTTTAATTTAAACTTAACAGAAATCACTTATTTTTCCCAGTGGTACTGAATAATTATGCATTGCTGTGGATTCAGTGTCAGGTTAAAGCCTCAGTGCATCGCTTAGCTAGGTCAGCATCATTACCAGTGTGTGCTTATCATGCCAGCCATCCAGAATAAACAGCACTTGGGCCTAGCGCTGCCAGAGTTGAGACCTGCAGAGTGTGCTGCATGCCTGGGAAAGTTTGAGAAGACATTGTGGAGAGCATGTTCTTGGGCAGTTTTCACCTTAAACCTCTTGCCATTCACATGCAGAAAACTGTTGCTGCTGAAAG... |
Task1_train_31370 | The gene MTM1 (myotubularin 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Centronuclear myopathy | ATGCAAGCTGCATCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATAT... | ATGCAAGCTGCATCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATAT... |
Task1_train_31371 | A genomic change on Chromosome X affects MTM1 (myotubularin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe X-linked myotubular myopathy | ATGCAAGCTGCATCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATAT... | ATGCAAGCTGCATCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATAT... |
Task1_train_31372 | This variant affects the gene MTM1 (myotubularin 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe X-linked myotubular myopathy | AAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACAT... | AAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACAT... |
Task1_train_31373 | A variant on Chromosome X in gene MTM1 (myotubularin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe X-linked myotubular myopathy | ATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTA... | ATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTA... |
Task1_train_31374 | This variant affects the gene MTM1 (myotubularin 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe X-linked myotubular myopathy | GAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCT... | GAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCT... |
Task1_train_31375 | This mutation occurs in MTM1 (myotubularin 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Severe X-linked myotubular myopathy | CATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCAT... | CATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCAT... |
Task1_train_31376 | A mutation on Chromosome X affecting MTM1 (myotubularin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Severe X-linked myotubular myopathy | TATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAA... | TATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAA... |
Task1_train_31377 | Gene MTM1 (myotubularin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Centronuclear myopathy | GAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAG... | GAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAG... |
Task1_train_31378 | Consider a variant on Chromosome X in gene MTM1 (myotubularin 1). Determine its clinical classification and disease relevance. | Pathogenic; Severe X-linked myotubular myopathy | CTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTT... | CTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTT... |
Task1_train_31379 | A variant affecting Chromosome X, within the gene MTM1 (myotubularin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe X-linked myotubular myopathy | TTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAG... | TTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAG... |
Task1_train_31380 | This variant affects the gene MTM1 (myotubularin 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe X-linked myotubular myopathy | TAAACAACTTCCCATGTTGCTAAATATGATCCGCTCATATGCCAGTGTGTAGATGTACCATGATTTAATCAGTTTTCCATTGTGAGACATTCAGCTTCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAAT... | TAAACAACTTCCCATGTTGCTAAATATGATCCGCTCATATGCCAGTGTGTAGATGTACCATGATTTAATCAGTTTTCCATTGTGAGACATTCAGCTTCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAAT... |
Task1_train_31381 | Chromosome X houses a mutation in gene MTM1 (myotubularin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Severe X-linked myotubular myopathy | ATGCCAGTGTGTAGATGTACCATGATTTAATCAGTTTTCCATTGTGAGACATTCAGCTTCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTC... | ATGCCAGTGTGTAGATGTACCATGATTTAATCAGTTTTCCATTGTGAGACATTCAGCTTCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTC... |
Task1_train_31382 | This alteration in MTM1 (myotubularin 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Severe X-linked myotubular myopathy | TCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATT... | TCTGCTTAATCTTTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATT... |
Task1_train_31383 | Given a variant located on Chromosome X and affecting MTM1 (myotubularin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | TTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCG... | TTTGCTATTGTAAGTAATGCTGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCG... |
Task1_train_31384 | The gene MTM1 (myotubularin 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Severe X-linked myotubular myopathy | TTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAA... | TTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAA... |
Task1_train_31385 | Given a variant located on Chromosome X and affecting MTM1 (myotubularin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | GCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATT... | GCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATT... |
Task1_train_31386 | This mutation occurs in MTM1 (myotubularin 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Severe X-linked myotubular myopathy | ACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAA... | ACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAA... |
Task1_train_31387 | The gene MTM1 (myotubularin 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe X-linked myotubular myopathy | CATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGA... | CATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGA... |
Task1_train_31388 | Given a variant located on Chromosome X and affecting MTM1 (myotubularin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | CATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTT... | CATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTT... |
Task1_train_31389 | Given a variant located on Chromosome X and affecting MTM1 (myotubularin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe X-linked myotubular myopathy | AATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTT... | AATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTT... |
Task1_train_31390 | A genomic change on Chromosome X affects MTM1 (myotubularin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe X-linked myotubular myopathy | AATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTT... | AATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTT... |
Task1_train_31391 | This alteration occurs within gene MTM1 (myotubularin 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe X-linked myotubular myopathy | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... |
Task1_train_31392 | A variant found in Chromosome X affects MTM1 (myotubularin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Centronuclear myopathy | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... |
Task1_train_31393 | Here is a variant affecting MTM1 (myotubularin 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... |
Task1_train_31394 | This gene mutation involves MTM1 (myotubularin 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital myopathy with fiber type disproportion | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... | TTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCAT... |
Task1_train_31395 | The gene MTM1 (myotubularin 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Severe X-linked myotubular myopathy | TAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTA... | TAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTA... |
Task1_train_31396 | A mutation found in MTM1 (myotubularin 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Severe X-linked myotubular myopathy | GAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAG... | GAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAG... |
Task1_train_31397 | Here is a mutation in MTM1 (myotubularin 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Severe X-linked myotubular myopathy | TGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTC... | TGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTC... |
Task1_train_31398 | Given this context: Chromosome X, gene MTM1 (myotubularin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe X-linked myotubular myopathy | TACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACT... | TACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACT... |
Task1_train_31399 | A mutation found in VMA21 (vacuolar ATPase assembly factor VMA21) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; X-linked myopathy with excessive autophagy | CTGGTGTCCGGTGCTGGTGGTCAGGGTTGCTGCGTGGGCTCAGGGACCAGTGTGACAGTGGCTTCCCTGGGCAAAAGCTCTGATTCCAGTGTGGGAGGGTGCACAGGTGTGTCTGCCTCGTTAGTTCCCTGGTCCACTGTCTCATGCTGGAGGACAGCAAGCTGGTCGCTTCCCGTGACGGAAGCTCTGATTCCAGCAAAAGAGGGCGCGCTGATCCACCCATGGTGCCTGCTGCGTTCCCAGCTCTGGTGTCTGGTGCTGGTGGACACGGTTGCCGCATGGGTTGGGCACTGGTGCCGCTGTCCGCCGTGGCTTCCCTG... | CTGGTGTCCGGTGCTGGTGGTCAGGGTTGCTGCGTGGGCTCAGGGACCAGTGTGACAGTGGCTTCCCTGGGCAAAAGCTCTGATTCCAGTGTGGGAGGGTGCACAGGTGTGTCTGCCTCGTTAGTTCCCTGGTCCACTGTCTCATGCTGGAGGACAGCAAGCTGGTCGCTTCCCGTGACGGAAGCTCTGATTCCAGCAAAAGAGGGCGCGCTGATCCACCCATGGTGCCTGCTGCGTTCCCAGCTCTGGTGTCTGGTGCTGGTGGACACGGTTGCCGCATGGGTTGGGCACTGGTGCCGCTGTCCGCCGTGGCTTCCCTG... |
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