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_31100 | An alteration has been detected in PHF6 (PHD finger protein 6) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | CATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTT... | CATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTT... |
Task1_train_31101 | The gene PHF6 (PHD finger protein 6) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spastic paraplegia 4 | CATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTT... | CATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTT... |
Task1_train_31102 | This is a variant in PHF6 (PHD finger protein 6), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTTT... | ATTAAAGATGTCTGTACGGGATTTGATTTATACTGTGCCATCCTTTCAACTGGCCAGGATGACCGGGAGTAATGCTGAATACATTATTATGGTGATTTCAGAGTGCGTACTATTCATTGCATAGTAGTAAAGAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTTT... |
Task1_train_31103 | A variant found in Chromosome X affects PHF6 (PHD finger protein 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | GAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTTTTTTTTTCTTTAATCCTAAAAGTATTTGCTGCCTGTTTTCAATCAGTTTCACGGTTTATAGCCAGTGCTATGAATACAGTACTATGGTAAAGTATCCGTTGTCATTTGGACGACTGAGATATTTAAAATTAT... | GAAACTAATTTAGAACTCAAAATATAATAGCAAATTCTGATGCTATTTATGAATTTTGGTATTTTGCATAGTTAATTCTAAAAATTTGGGCAGGTATACTCTTGATAAAGCAACCGAACACAGATACTTGCCTGAGCAAATGCAAACACACTTCCCTTTTGTTTCTTTTGTTTCTCTGTTATGTCCTTTTTTTTTCTTTAATCCTAAAAGTATTTGCTGCCTGTTTTCAATCAGTTTCACGGTTTATAGCCAGTGCTATGAATACAGTACTATGGTAAAGTATCCGTTGTCATTTGGACGACTGAGATATTTAAAATTAT... |
Task1_train_31104 | The gene PHF6 (PHD finger protein 6) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | TTAACTGTATCTTGTCAATGTTGAGCTCAATATAGTATTTTAAATGGCACCTCTCTTTTCAGTTTTGCTCGCTAATTGAATTTAATATATTTTTTTCAAAATGTACCCATCTAAACCTGTTTTGGATGTAAGTTTCAAGATAAACTACTTTCCCTAAAGTTCTTAGTGAAGTGGGATAATGTTTGATGCGTTAAAAAAATAGATTGCAAAATAGTATGTGTAGAATTACGTTTCACTAAGCATTGTAACACTGTGAGGCATCTCTGCTTGGTGAGTATGAGTGATTTAAAATTTTTCTTTGTGCTTTTTTGTTTTCCAGA... | TTAACTGTATCTTGTCAATGTTGAGCTCAATATAGTATTTTAAATGGCACCTCTCTTTTCAGTTTTGCTCGCTAATTGAATTTAATATATTTTTTTCAAAATGTACCCATCTAAACCTGTTTTGGATGTAAGTTTCAAGATAAACTACTTTCCCTAAAGTTCTTAGTGAAGTGGGATAATGTTTGATGCGTTAAAAAAATAGATTGCAAAATAGTATGTGTAGAATTACGTTTCACTAAGCATTGTAACACTGTGAGGCATCTCTGCTTGGTGAGTATGAGTGATTTAAAATTTTTCTTTGTGCTTTTTTGTTTTCCAGA... |
Task1_train_31105 | The gene PHF6 (PHD finger protein 6) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | CCAAAAGCTTTGCCTTCTTGATAATTTGGCATAGTATTTCTTTTTACAGTAATACTTTGAAGTTTCTGTATTTATTTAAGGAAGAAAGGGGTATTTCTTGTATCAATAATGGGCACTGGCCCTCATGTTTTCTGGGAAACAGCTGTAGTGAGACTGTTTCTGTTTCTGACATATGAATATTTTTTAAATGATAGCCTGAATGAGAGTTTTAGTGTTTGACTTGCTTAGAGAAATGTAAGAAATTTTATTGGAATTTATATTAGCCTCTTGGTACACCAATATTGCTTAGAGGCCGAGTAATCCAAAAGTTAGGAATGCTA... | CCAAAAGCTTTGCCTTCTTGATAATTTGGCATAGTATTTCTTTTTACAGTAATACTTTGAAGTTTCTGTATTTATTTAAGGAAGAAAGGGGTATTTCTTGTATCAATAATGGGCACTGGCCCTCATGTTTTCTGGGAAACAGCTGTAGTGAGACTGTTTCTGTTTCTGACATATGAATATTTTTTAAATGATAGCCTGAATGAGAGTTTTAGTGTTTGACTTGCTTAGAGAAATGTAAGAAATTTTATTGGAATTTATATTAGCCTCTTGGTACACCAATATTGCTTAGAGGCCGAGTAATCCAAAAGTTAGGAATGCTA... |
Task1_train_31106 | Given this variant in gene PHF6 (PHD finger protein 6) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Borjeson-Forssman-Lehmann syndrome | GGTGTGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTGCAAGTAATTCTAACAGCTTTTAGTGAAATTCCATGTCTTAAAAATTGTCAGTTTGAATATTTAAATTAAGTAGTGTATTCTGACATGAAGTTTGCTATCGTGTTAAGGAGAGAAAACATCTTTAATTGACTTCTGTGTCTTCACAGGAAGTTATTCAC... | GGTGTGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTGCAAGTAATTCTAACAGCTTTTAGTGAAATTCCATGTCTTAAAAATTGTCAGTTTGAATATTTAAATTAAGTAGTGTATTCTGACATGAAGTTTGCTATCGTGTTAAGGAGAGAAAACATCTTTAATTGACTTCTGTGTCTTCACAGGAAGTTATTCAC... |
Task1_train_31107 | This mutation is located in gene PHF6 (PHD finger protein 6) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | CACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTGCAAGTAATTCTAACAGCTTTTAGTGAAATTCCATGTCTTAAAAATTGTCAGTTTGAATATTTAAATTAAGTAGTGTATTCTGACATGAAGTTTGCTATCGTGTTAAGGAGAGAAAACATCTTTAATTGACTTCTGTGTCTTCACAGGAAGTTATTCACGTGAATTTATTTTG... | CACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTGCAAGTAATTCTAACAGCTTTTAGTGAAATTCCATGTCTTAAAAATTGTCAGTTTGAATATTTAAATTAAGTAGTGTATTCTGACATGAAGTTTGCTATCGTGTTAAGGAGAGAAAACATCTTTAATTGACTTCTGTGTCTTCACAGGAAGTTATTCACGTGAATTTATTTTG... |
Task1_train_31108 | Here is a mutation in PHF6 (PHD finger protein 6) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | CAACAGTCCTGTATATGTGCTGTCTAATACAGTTGCAACTAGCCACATGTAGCCAATAAGCTCTTGCAGTGCGGTCAGTGTGACTAAGAAACTGAAGTTTTAATTTTATTTAATTATAACTGACTTAAATTTTTTAAGGCCACATGTTGCTAGTGGCTACTACATTGAATAGCACAGATATATCTACTTTATTTTCATTTAGTTTTCCAAGTTACAGTAAGTGTATTTTCTAGGTAAGTGTTCTAATTTTACAAACTCTTTGAAACCTATGGTAAAAAAAAATAATAATGCAAAAGCAAACTCTAAAAATTAATTTACTA... | CAACAGTCCTGTATATGTGCTGTCTAATACAGTTGCAACTAGCCACATGTAGCCAATAAGCTCTTGCAGTGCGGTCAGTGTGACTAAGAAACTGAAGTTTTAATTTTATTTAATTATAACTGACTTAAATTTTTTAAGGCCACATGTTGCTAGTGGCTACTACATTGAATAGCACAGATATATCTACTTTATTTTCATTTAGTTTTCCAAGTTACAGTAAGTGTATTTTCTAGGTAAGTGTTCTAATTTTACAAACTCTTTGAAACCTATGGTAAAAAAAAATAATAATGCAAAAGCAAACTCTAAAAATTAATTTACTA... |
Task1_train_31109 | A variant on Chromosome X in gene PHF6 (PHD finger protein 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | ATACAGTTGCAACTAGCCACATGTAGCCAATAAGCTCTTGCAGTGCGGTCAGTGTGACTAAGAAACTGAAGTTTTAATTTTATTTAATTATAACTGACTTAAATTTTTTAAGGCCACATGTTGCTAGTGGCTACTACATTGAATAGCACAGATATATCTACTTTATTTTCATTTAGTTTTCCAAGTTACAGTAAGTGTATTTTCTAGGTAAGTGTTCTAATTTTACAAACTCTTTGAAACCTATGGTAAAAAAAAATAATAATGCAAAAGCAAACTCTAAAAATTAATTTACTAAACTATTTGTATTTGATTTTTATTGC... | ATACAGTTGCAACTAGCCACATGTAGCCAATAAGCTCTTGCAGTGCGGTCAGTGTGACTAAGAAACTGAAGTTTTAATTTTATTTAATTATAACTGACTTAAATTTTTTAAGGCCACATGTTGCTAGTGGCTACTACATTGAATAGCACAGATATATCTACTTTATTTTCATTTAGTTTTCCAAGTTACAGTAAGTGTATTTTCTAGGTAAGTGTTCTAATTTTACAAACTCTTTGAAACCTATGGTAAAAAAAAATAATAATGCAAAAGCAAACTCTAAAAATTAATTTACTAAACTATTTGTATTTGATTTTTATTGC... |
Task1_train_31110 | A variant on Chromosome X in gene PHF6 (PHD finger protein 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | TTAGAGTACATCCCAAATTTATCCAGTCATCAGAAAATTTAAAGTAGTTCGTATGTTAAAGCAAAGTATATATTTGACTTATTTGTAATATAATAAAGGATGCTGATGTTACTGAAACTTATTTCTCTATGTAACTTCATTACTTTAAGAGAATTATACTGAGAAGATTTATATACATTTCAAGGCATTTGCAAGCCGTTTAATAAAATAAATGAAGATATGAATGTGACAAACTTCATTAAGTTTAAAATGTTACATTGTGTAAGCTTGCTTAAAGGAAATTTTTTTCAGGGCTTTCTGTTTAAAGAACACATACACAG... | TTAGAGTACATCCCAAATTTATCCAGTCATCAGAAAATTTAAAGTAGTTCGTATGTTAAAGCAAAGTATATATTTGACTTATTTGTAATATAATAAAGGATGCTGATGTTACTGAAACTTATTTCTCTATGTAACTTCATTACTTTAAGAGAATTATACTGAGAAGATTTATATACATTTCAAGGCATTTGCAAGCCGTTTAATAAAATAAATGAAGATATGAATGTGACAAACTTCATTAAGTTTAAAATGTTACATTGTGTAAGCTTGCTTAAAGGAAATTTTTTTCAGGGCTTTCTGTTTAAAGAACACATACACAG... |
Task1_train_31111 | A variant found in Chromosome X affects PHF6 (PHD finger protein 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Borjeson-Forssman-Lehmann syndrome | AGTCATCAGAAAATTTAAAGTAGTTCGTATGTTAAAGCAAAGTATATATTTGACTTATTTGTAATATAATAAAGGATGCTGATGTTACTGAAACTTATTTCTCTATGTAACTTCATTACTTTAAGAGAATTATACTGAGAAGATTTATATACATTTCAAGGCATTTGCAAGCCGTTTAATAAAATAAATGAAGATATGAATGTGACAAACTTCATTAAGTTTAAAATGTTACATTGTGTAAGCTTGCTTAAAGGAAATTTTTTTCAGGGCTTTCTGTTTAAAGAACACATACACAGGGCTGCCTCTTAAAATGTTTGTCA... | AGTCATCAGAAAATTTAAAGTAGTTCGTATGTTAAAGCAAAGTATATATTTGACTTATTTGTAATATAATAAAGGATGCTGATGTTACTGAAACTTATTTCTCTATGTAACTTCATTACTTTAAGAGAATTATACTGAGAAGATTTATATACATTTCAAGGCATTTGCAAGCCGTTTAATAAAATAAATGAAGATATGAATGTGACAAACTTCATTAAGTTTAAAATGTTACATTGTGTAAGCTTGCTTAAAGGAAATTTTTTTCAGGGCTTTCTGTTTAAAGAACACATACACAGGGCTGCCTCTTAAAATGTTTGTCA... |
Task1_train_31112 | A variant affecting Chromosome X, within the gene HPRT1, LOC107032760, LOC129929047 (hypoxanthine phosphoribosyltransferase 1| origin of replication in promoter/intron 1 of HPRT1| ATAC-STARR-seq lymphoblastoid silent region 21009), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lesch-Nyhan syndrome | CATGTATTGAGCCAAGCTCTATGCTAGGCACTTTTGCATATATTATTTTGTTTAATCTTCACCACACTCTGTGACAGAGATATTAACCTCATTTGACGTATAAGAAACCAAGCACGCAGGGACCAAGGATCTTGCCCAAAGTCAAAATGCTATAATAGTGGGGAACCCAGGATTTGAACTCAGTCCAAAGCCCATACATCCCTTTTCCATTACAGCCTGCTGCCTCTCCAGGATAAAGAGGGAAGACAGGGAAAGTAGGGAAGTATGGACTTCACAAATTCATACATGCTAAAATTATAACAGCTACTGTTTCTTGAGCA... | CATGTATTGAGCCAAGCTCTATGCTAGGCACTTTTGCATATATTATTTTGTTTAATCTTCACCACACTCTGTGACAGAGATATTAACCTCATTTGACGTATAAGAAACCAAGCACGCAGGGACCAAGGATCTTGCCCAAAGTCAAAATGCTATAATAGTGGGGAACCCAGGATTTGAACTCAGTCCAAAGCCCATACATCCCTTTTCCATTACAGCCTGCTGCCTCTCCAGGATAAAGAGGGAAGACAGGGAAAGTAGGGAAGTATGGACTTCACAAATTCATACATGCTAAAATTATAACAGCTACTGTTTCTTGAGCA... |
Task1_train_31113 | Given this context: Chromosome X, gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Lesch-Nyhan syndrome | ATATATAGTATTTATAAAGCTGTACTCATAGTACATTTTCACATCACAGGTACCATATCAGTGTTATTAAATATTTTGTATGCCAGGGGCTAGACATACCAAGACAACCAATATGTGGTTCTACTTAAATAATATTAGAGTATCTTTTATGATGACACTTCATGAGTTGACTATAATAATCTTAGACTTCTAAGAGTTTGGGTTTTCAAAAGATCACTTAGCTTTTTTGGGTGATTTTTCCCCCTTACTGTGAGATGAGAGAGGCTGTTTGGATTTGGGATTGGGGTAGCGGGGACAGCAACTTTTCTTTTCTTTTTCTT... | ATATATAGTATTTATAAAGCTGTACTCATAGTACATTTTCACATCACAGGTACCATATCAGTGTTATTAAATATTTTGTATGCCAGGGGCTAGACATACCAAGACAACCAATATGTGGTTCTACTTAAATAATATTAGAGTATCTTTTATGATGACACTTCATGAGTTGACTATAATAATCTTAGACTTCTAAGAGTTTGGGTTTTCAAAAGATCACTTAGCTTTTTTGGGTGATTTTTCCCCCTTACTGTGAGATGAGAGAGGCTGTTTGGATTTGGGATTGGGGTAGCGGGGACAGCAACTTTTCTTTTCTTTTTCTT... |
Task1_train_31114 | This sequence variant lies in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lesch-Nyhan syndrome | GGCTAGACATACCAAGACAACCAATATGTGGTTCTACTTAAATAATATTAGAGTATCTTTTATGATGACACTTCATGAGTTGACTATAATAATCTTAGACTTCTAAGAGTTTGGGTTTTCAAAAGATCACTTAGCTTTTTTGGGTGATTTTTCCCCCTTACTGTGAGATGAGAGAGGCTGTTTGGATTTGGGATTGGGGTAGCGGGGACAGCAACTTTTCTTTTCTTTTTCTTTTTTATTTTGAGGTAGGGTATTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGG... | GGCTAGACATACCAAGACAACCAATATGTGGTTCTACTTAAATAATATTAGAGTATCTTTTATGATGACACTTCATGAGTTGACTATAATAATCTTAGACTTCTAAGAGTTTGGGTTTTCAAAAGATCACTTAGCTTTTTTGGGTGATTTTTCCCCCTTACTGTGAGATGAGAGAGGCTGTTTGGATTTGGGATTGGGGTAGCGGGGACAGCAACTTTTCTTTTCTTTTTCTTTTTTATTTTGAGGTAGGGTATTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGG... |
Task1_train_31115 | This variant lies on Chromosome X and affects the gene HPRT1 (hypoxanthine phosphoribosyltransferase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lesch-Nyhan syndrome | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... |
Task1_train_31116 | The gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... |
Task1_train_31117 | A variant was discovered in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; HPRT1-related disorder | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... | CAGCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATG... |
Task1_train_31118 | Gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGA... | GCCTCCCAAAGTGCTGGGATTACACGTGTGAACCAACCCGCCCGGCCTGTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGA... |
Task1_train_31119 | Consider a variant on Chromosome X in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1). Determine its clinical classification and disease relevance. | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | GTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTA... | GTTGTTTTCTTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTA... |
Task1_train_31120 | This alteration in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAAC... | TTACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAAC... |
Task1_train_31121 | Here is a genetic alteration in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACA... | TACATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACA... |
Task1_train_31122 | A mutation found in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lesch-Nyhan syndrome | ATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCA... | ATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCA... |
Task1_train_31123 | The gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | ATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCA... | ATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCA... |
Task1_train_31124 | Given this variant in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | CATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCT... | CATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCT... |
Task1_train_31125 | The gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Lesch-Nyhan syndrome | CATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCT... | CATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCT... |
Task1_train_31126 | Chromosome X houses a mutation in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lesch-Nyhan syndrome | ACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGT... | ACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGT... |
Task1_train_31127 | Located on Chromosome X, this mutation impacts HPRT1 (hypoxanthine phosphoribosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lesch-Nyhan syndrome | AACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGTACTTGCTATTTG... | AACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGTACTTGCTATTTG... |
Task1_train_31128 | A variant found in Chromosome X affects HPRT1 (hypoxanthine phosphoribosyltransferase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lesch-Nyhan syndrome | AAATCTCATGTTGAACCATCGTAAGTTGGATACCATCTGAATTACATTTTTGTTATCCATTCACTGGTTGACAGACGTTAGGTTGTTTCCACTGTTTGCTCCTTATTTCTCGTACCTGAAATGTCCTTATTCCCTCCCTTCTTATCCCATGTTTAAGTCATTTAAGACCCAGCTCAAACGTCACCTCCACAAAACCTTCCTTGATACCCCTTTCCTCTTCAATTCACTTGGACCTTTTGCATTTAATTTTAATTTTTATTTTTTTTAAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTATGATCTCAGCT... | AAATCTCATGTTGAACCATCGTAAGTTGGATACCATCTGAATTACATTTTTGTTATCCATTCACTGGTTGACAGACGTTAGGTTGTTTCCACTGTTTGCTCCTTATTTCTCGTACCTGAAATGTCCTTATTCCCTCCCTTCTTATCCCATGTTTAAGTCATTTAAGACCCAGCTCAAACGTCACCTCCACAAAACCTTCCTTGATACCCCTTTCCTCTTCAATTCACTTGGACCTTTTGCATTTAATTTTAATTTTTATTTTTTTTAAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTATGATCTCAGCT... |
Task1_train_31129 | A sequence alteration has been identified in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | TTTACATATATCTTCTTAAGAACGGTTACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCC... | TTTACATATATCTTCTTAAGAACGGTTACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCC... |
Task1_train_31130 | This gene mutation involves HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lesch-Nyhan syndrome | GTTACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGT... | GTTACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGT... |
Task1_train_31131 | The following genetic variant occurs in HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lesch-Nyhan syndrome | TACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGG... | TACCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGG... |
Task1_train_31132 | Given this variant in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lesch-Nyhan syndrome | AAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTT... | AAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTT... |
Task1_train_31133 | A variant affecting Chromosome X, within the gene HPRT1 (hypoxanthine phosphoribosyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lesch-Nyhan syndrome | TGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTTGGGCCCTTTCCAGCTCTTTAAACATATATATTTATCTAGGA... | TGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTTGGGCCCTTTCCAGCTCTTTAAACATATATATTTATCTAGGA... |
Task1_train_31134 | The gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTTGGGCCCTTTCCAGCTCTTTAAACATATATATTTATCTAGGA... | TGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTTATCTACTTAGGCTGCACATTGGAATCACCTGAGAGTTAAAAAACCAGGATAACCTCTGCCTGTGTCTCATCTCCAGCAATTCTGATGTAATTGGTCAGGGCTGTGGCCCGAGTAGGTGAGTTCTGGTTTTTTAAAGCTCCCAGGTGATTCTGATGTGCAATCCAGGTTGAGATCACTTTGGGCCCTTTCCAGCTCTTTAAACATATATATTTATCTAGGA... |
Task1_train_31135 | A genomic change on Chromosome X affects HPRT1 (hypoxanthine phosphoribosyltransferase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | GCTCACCTCTCCCACACCCTTTTATAGTTTAGGGATTGTATTTCCAAGGTTTCTAGACTGAGAGCCCTTTTCATCTTTGCTCATTGACACTCTGTACCCATTAATCCTCCTTATTAGCTCCCCTTCAATGGACACATGGGTAGTCAGGGTGCAGGTCTCAGAACTGTCCTTCAGGTTCCAGGTGATCAACCAAGTGCCTTGTCTGTAGTGTCAACTCATTGCTGCCCCTTCCTAGTAATCCCCATAATTTAGCTCTCCATTTCATAGTCTTTCCTTGGGTGTGTTAAAAGTGACCATGGTACACTCAGCACGGATGAAAT... | GCTCACCTCTCCCACACCCTTTTATAGTTTAGGGATTGTATTTCCAAGGTTTCTAGACTGAGAGCCCTTTTCATCTTTGCTCATTGACACTCTGTACCCATTAATCCTCCTTATTAGCTCCCCTTCAATGGACACATGGGTAGTCAGGGTGCAGGTCTCAGAACTGTCCTTCAGGTTCCAGGTGATCAACCAAGTGCCTTGTCTGTAGTGTCAACTCATTGCTGCCCCTTCCTAGTAATCCCCATAATTTAGCTCTCCATTTCATAGTCTTTCCTTGGGTGTGTTAAAAGTGACCATGGTACACTCAGCACGGATGAAAT... |
Task1_train_31136 | Given a variant located on Chromosome X and affecting HPRT1 (hypoxanthine phosphoribosyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lesch-Nyhan syndrome | GCTCACCTCTCCCACACCCTTTTATAGTTTAGGGATTGTATTTCCAAGGTTTCTAGACTGAGAGCCCTTTTCATCTTTGCTCATTGACACTCTGTACCCATTAATCCTCCTTATTAGCTCCCCTTCAATGGACACATGGGTAGTCAGGGTGCAGGTCTCAGAACTGTCCTTCAGGTTCCAGGTGATCAACCAAGTGCCTTGTCTGTAGTGTCAACTCATTGCTGCCCCTTCCTAGTAATCCCCATAATTTAGCTCTCCATTTCATAGTCTTTCCTTGGGTGTGTTAAAAGTGACCATGGTACACTCAGCACGGATGAAAT... | GCTCACCTCTCCCACACCCTTTTATAGTTTAGGGATTGTATTTCCAAGGTTTCTAGACTGAGAGCCCTTTTCATCTTTGCTCATTGACACTCTGTACCCATTAATCCTCCTTATTAGCTCCCCTTCAATGGACACATGGGTAGTCAGGGTGCAGGTCTCAGAACTGTCCTTCAGGTTCCAGGTGATCAACCAAGTGCCTTGTCTGTAGTGTCAACTCATTGCTGCCCCTTCCTAGTAATCCCCATAATTTAGCTCTCCATTTCATAGTCTTTCCTTGGGTGTGTTAAAAGTGACCATGGTACACTCAGCACGGATGAAAT... |
Task1_train_31137 | Given this variant in gene SLC9A6 (solute carrier family 9 member A6) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Christianson syndrome | ACGATCTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCCCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCAACACCACACCCAGCAAGTTTTTTTATATTTTTAGTAGAGATGGGGTTTCATCATGTCGGCCAGGCTGATCTCGAACTCCTGACGTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAAAAACATGTTTTAAACCCCCCACCCAAAACAAAAAGCCAGAAGGCATGTCTGGATCACCTGCTACATGTGCTGTGCT... | ACGATCTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCCCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCAACACCACACCCAGCAAGTTTTTTTATATTTTTAGTAGAGATGGGGTTTCATCATGTCGGCCAGGCTGATCTCGAACTCCTGACGTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAAAAACATGTTTTAAACCCCCCACCCAAAACAAAAAGCCAGAAGGCATGTCTGGATCACCTGCTACATGTGCTGTGCT... |
Task1_train_31138 | Gene FHL1 (four and a half LIM domains 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; X-linked myopathy with postural muscle atrophy | TTTTCGGGGGAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCTATTTTAAGATTATAATTTTTAAGACAGCAAATATCCCAAATGGTAATACTGGTTACACTTCTAT... | TTTTCGGGGGAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCTATTTTAAGATTATAATTTTTAAGACAGCAAATATCCCAAATGGTAATACTGGTTACACTTCTAT... |
Task1_train_31139 | Assess the clinical impact of this variant on gene FHL1 (four and a half LIM domains 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Myopathy, reducing body, X-linked, childhood-onset | GAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCTATTTTAAGATTATAATTTTTAAGACAGCAAATATCCCAAATGGTAATACTGGTTACACTTCTATGAGCATATT... | GAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCTATTTTAAGATTATAATTTTTAAGACAGCAAATATCCCAAATGGTAATACTGGTTACACTTCTATGAGCATATT... |
Task1_train_31140 | This variant affects gene FHL1 (four and a half LIM domains 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AACGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATC... | AACGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATC... |
Task1_train_31141 | Given this context: Chromosome X, gene FHL1 (four and a half LIM domains 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Myopathy, reducing body, X-linked, early-onset, severe | CGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCA... | CGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCA... |
Task1_train_31142 | This alteration occurs within gene FHL1 (four and a half LIM domains 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked myopathy with postural muscle atrophy | GGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCAC... | GGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCAC... |
Task1_train_31143 | Assess the clinical impact of this variant on gene FHL1 (four and a half LIM domains 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Myopathy, reducing body, X-linked, early-onset, severe | GGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCAC... | GGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCAC... |
Task1_train_31144 | The gene FHL1 (four and a half LIM domains 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked myopathy with postural muscle atrophy | GGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACT... | GGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACT... |
Task1_train_31145 | Gene FHL1 (four and a half LIM domains 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; X-linked myopathy with postural muscle atrophy | GGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACT... | GGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACT... |
Task1_train_31146 | Assess the clinical impact of this variant on gene FHL1 (four and a half LIM domains 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Centronuclear myopathy | CCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAAT... | CCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAAT... |
Task1_train_31147 | A genomic change on Chromosome X affects FHL1 (four and a half LIM domains 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked myopathy with postural muscle atrophy | AACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCAC... | AACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCAC... |
Task1_train_31148 | A variant was discovered in gene FHL1 (four and a half LIM domains 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked myopathy with postural muscle atrophy | GGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCACTAGCCATC... | GGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCACTAGCCATC... |
Task1_train_31149 | This genomic variant is located on Chromosome X, within the FHL1 (four and a half LIM domains 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked myopathy with postural muscle atrophy | GGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCACTAGCCATCG... | GGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAGGCTCTGATCCACTTGCCCCGCTCCGCATCTTTTGTGAATCAGCACAGTTGATATATCTGAGCAGGGGCTTCTACCATCTCCCCAGGGAATCACTAGCCATCG... |
Task1_train_31150 | A variant found in Chromosome X affects FHL1 (four and a half LIM domains 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; X-linked myopathy with postural muscle atrophy | ACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGTGAGATTTTTATCCT... | ACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGTGAGATTTTTATCCT... |
Task1_train_31151 | Assess the clinical impact of this variant on gene FHL1 (four and a half LIM domains 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; X-linked myopathy with postural muscle atrophy | TACACATATATGCTCGCACACACGCACACACTCGGAGACTAAAGAACACTGGCGAGAACAGCCTGTGGCAACAGAATGAAGTGAACAGTATGTAGCGCTTTCTCATTTGGGCGTAGTAAGTGATGAAAGCATGCTTCTTCCTCAGGGTGTCATTCTGGGCCAGGCAGTCCCTGATTTAATGTCTAAGTGCACGCAGGGTATAGAGGTGGGGGAGTGGGGGATTCAGGCACTGGATCCTAAAATAATAATGCTGGGGTCCCCACCCATGACAGAAATCCTGGGTTGGCACAAGCACAAGTAGAACACAGGTAGGTTAGTTG... | TACACATATATGCTCGCACACACGCACACACTCGGAGACTAAAGAACACTGGCGAGAACAGCCTGTGGCAACAGAATGAAGTGAACAGTATGTAGCGCTTTCTCATTTGGGCGTAGTAAGTGATGAAAGCATGCTTCTTCCTCAGGGTGTCATTCTGGGCCAGGCAGTCCCTGATTTAATGTCTAAGTGCACGCAGGGTATAGAGGTGGGGGAGTGGGGGATTCAGGCACTGGATCCTAAAATAATAATGCTGGGGTCCCCACCCATGACAGAAATCCTGGGTTGGCACAAGCACAAGTAGAACACAGGTAGGTTAGTTG... |
Task1_train_31152 | A genetic alteration is present in FHL1 (four and a half LIM domains 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; X-linked myopathy with postural muscle atrophy | GGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACAGCCAAGTCAGGCTGTCAGTACGCATCCTCAGCCTGGTGGTGCGGGTGGCCCGTATGGCATGCTGAGCTGGGCAGCCCTGGCTCTAGAAGCCTGCCTCCACCACTTAGGGGCTGTGTAACCTCACATAGGGGCTCACCTTCTCCGAGC... | GGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACAGCCAAGTCAGGCTGTCAGTACGCATCCTCAGCCTGGTGGTGCGGGTGGCCCGTATGGCATGCTGAGCTGGGCAGCCCTGGCTCTAGAAGCCTGCCTCCACCACTTAGGGGCTGTGTAACCTCACATAGGGGCTCACCTTCTCCGAGC... |
Task1_train_31153 | Consider a variant on Chromosome X in gene CD40LG (CD40 ligand). Determine its clinical classification and disease relevance. | Pathogenic; Hyper-IgM syndrome type 1 | AGAGCCCCTGTCAAAATGACCTCTTGCAATGCTTCTTATTTTAGGATATAATGTTAAACAAAGAGGAGACGAAGAAAGAAAACAGCTTTGAAATGCAAAAAGGTAGGTTTGCTATTTGCTAATTTCTATGAATGCCTAAAAACTAAAAGGAAGCTTTAGGCTGATCATATTGAACAACCCAGTGTTGTTGCATCAGGGAACTTTTAGCCCTGGAAATAAAACAGGAACACAATTGTCAAATTGACACCTTCTCTGGTCCCTGTGATTTGGAAAGACTTTGTACATATATATTTATGAAAAAAGGATGTGTTCCTTTAATG... | AGAGCCCCTGTCAAAATGACCTCTTGCAATGCTTCTTATTTTAGGATATAATGTTAAACAAAGAGGAGACGAAGAAAGAAAACAGCTTTGAAATGCAAAAAGGTAGGTTTGCTATTTGCTAATTTCTATGAATGCCTAAAAACTAAAAGGAAGCTTTAGGCTGATCATATTGAACAACCCAGTGTTGTTGCATCAGGGAACTTTTAGCCCTGGAAATAAAACAGGAACACAATTGTCAAATTGACACCTTCTCTGGTCCCTGTGATTTGGAAAGACTTTGTACATATATATTTATGAAAAAAGGATGTGTTCCTTTAATG... |
Task1_train_31154 | A mutation on Chromosome X affecting CD40LG (CD40 ligand) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hyper-IgM syndrome type 1 | AGCCTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATT... | AGCCTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATT... |
Task1_train_31155 | This variant lies on Chromosome X and affects the gene CD40LG (CD40 ligand). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyper-IgM syndrome type 1 | CCTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTAT... | CCTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTAT... |
Task1_train_31156 | A mutation in CD40LG (CD40 ligand), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyper-IgM syndrome type 1 | CTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATC... | CTTTAGATATTTTTTCCCAAATGTGCATCTTGCGATAACTGGTGCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATC... |
Task1_train_31157 | A variant on Chromosome X in gene CD40LG (CD40 ligand) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTT... | GCCAAAGAATATGTCGTATCTGATAAATGGATGGAAACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTT... |
Task1_train_31158 | Here is a mutation in CD40LG (CD40 ligand) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hyper-IgM syndrome type 1 | AACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTT... | AACATGCACGCTAACATAAAGTCTCCCATCAACATAAAGGCAAGAGCGTCAGAGGAGTCTTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTT... |
Task1_train_31159 | A variant was discovered in gene CD40LG (CD40 ligand), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyper-IgM syndrome type 1 | TTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTG... | TTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTG... |
Task1_train_31160 | The gene CD40LG (CD40 ligand) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyper-IgM syndrome type 1 | CTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAA... | CTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAA... |
Task1_train_31161 | This is a variant in CD40LG (CD40 ligand), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hyper-IgM syndrome type 1 | TTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACC... | TTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACC... |
Task1_train_31162 | Assess the clinical impact of this variant on gene CD40LG (CD40 ligand), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hyper-IgM syndrome type 1 | AAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACCAGTTAGTTACACAATATTTAATAATTTTGTCAAGTACCCCTTCTCTCTTCTGGATCAG... | AAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACCAGTTAGTTACACAATATTTAATAATTTTGTCAAGTACCCCTTCTCTCTTCTGGATCAG... |
Task1_train_31163 | The gene CD40LG (CD40 ligand) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hyper-IgM syndrome type 1 | GAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACCAGTTAGTTACACAATATTTAATAATTTTGTCAAGTACCCCTTCTCTCTTCTGGATCAGATGACAACA... | GAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTTTACAGGGTGGCTTTGAGCATCAAATCAGCTAATGTGGCCGAAAGTGATGCTGTCGAGTGCTGTACAACCGTAAGGTGACACTACTTAGTTTACTTCACCATGGCTTAGATGTCAAAAGGGTGACATAAAGCCCCTCACTAATACCAGTTAGTTACACAATATTTAATAATTTTGTCAAGTACCCCTTCTCTCTTCTGGATCAGATGACAACA... |
Task1_train_31164 | This is a variant in GPR101 (G protein-coupled receptor 101), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Pituitary adenoma, growth hormone-secreting, 2 | AACCATTTTCAACCAAACACTCCCTCCACCCATATTGACAGTGGATTTCTGCATGAACAGTTGGTTGACTCTGGAGTTGCTTTAACTTGTTCTGTAGGAGGATCAAAAACACTGGCTTGACTGTTTTTTTGGTTCCATGTTACTTGGTCACATACATACGGCCCATGCCCTCAGAAATGTATATGTATATCCCTGCCCAAAGTTATTTTGCGGTTTGGGATTTGAGGAATGTTCCTGTGAATTGACCCTAGGGATAATTTAGATATTGTTAAAGTTTTCCCAACGTGATTTATTTCAACAGCATTAATTAGGATATGTCT... | AACCATTTTCAACCAAACACTCCCTCCACCCATATTGACAGTGGATTTCTGCATGAACAGTTGGTTGACTCTGGAGTTGCTTTAACTTGTTCTGTAGGAGGATCAAAAACACTGGCTTGACTGTTTTTTTGGTTCCATGTTACTTGGTCACATACATACGGCCCATGCCCTCAGAAATGTATATGTATATCCCTGCCCAAAGTTATTTTGCGGTTTGGGATTTGAGGAATGTTCCTGTGAATTGACCCTAGGGATAATTTAGATATTGTTAAAGTTTTCCCAACGTGATTTATTTCAACAGCATTAATTAGGATATGTCT... |
Task1_train_31165 | This alteration occurs within gene ZIC3 (Zic family member 3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Heterotaxy, visceral, 1, X-linked | CGGCGAGTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGA... | CGGCGAGTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGA... |
Task1_train_31166 | Consider a variant on Chromosome X in gene ZIC3 (Zic family member 3). Determine its clinical classification and disease relevance. | Pathogenic; Heterotaxy, visceral, 1, X-linked | GGCGAGTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGAC... | GGCGAGTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGAC... |
Task1_train_31167 | Located on Chromosome X, this mutation impacts ZIC3 (Zic family member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Heterotaxy, visceral, 1, X-linked | GTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGACGTTGA... | GTACGGCCGCTGCTCACAAACTAAAGGGTCAACGCTTGGCGCAGACGGAAGTAACGGAGATCAGCTCTAATTGTAATCGTTTCTTCTCCTTTGGGTCTCGGACAGCTGCCGACAGGTTGGGGGCACAAACGGCGAACTATCCCGGCCTGGGTCCCGGCCTCGAGGCCATCAGAACTCGCAGTGATTGGAGGTGGACGCAGCGGCTGGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGACGTTGA... |
Task1_train_31168 | The gene ZIC3 (Zic family member 3) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Heterotaxy, visceral, 1, X-linked | GGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGACGTTGAGCGCCGCGTCTCCTCCATCGGCGCAGCAGTGGGACCGATCCTCGCGGGGCAAAGAGCCCGCGAGGGGTGGGGGAAAGCCCGCGAGAGTCCCGGCGGCGTCCCGCCGTTTGCCGGCTGGAGCCTGGCCCCAGTTCCCCGCAGCCACTCAAGCCCGGTGGAGCCCACTCGCGGCCGCCCGGCAGCCGCCGCCTCACCTGCCAGGCAC... | GGACCGGGAGCGCGAAACTGCTGCGCTCTCCCCAGGATCTGCGCCCTGCAGCTACAGAGGGGACATGTTCTCAAGGTGGTGAGGCAGCGGGGGCCCAAGCAGGACTGGACGTTGAGCGCCGCGTCTCCTCCATCGGCGCAGCAGTGGGACCGATCCTCGCGGGGCAAAGAGCCCGCGAGGGGTGGGGGAAAGCCCGCGAGAGTCCCGGCGGCGTCCCGCCGTTTGCCGGCTGGAGCCTGGCCCCAGTTCCCCGCAGCCACTCAAGCCCGGTGGAGCCCACTCGCGGCCGCCCGGCAGCCGCCGCCTCACCTGCCAGGCAC... |
Task1_train_31169 | The following genetic variant occurs in ZIC3 (Zic family member 3) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Heterotaxy, visceral, 1, X-linked | TGGCGCTGCCTCTGCCGCCTTCAACTCAACGCGCGAGTTTCTGTTCCGCCAGCGCAGCTCCGGGCTCAGTGAGGCGGCCTCGGGTGGCGGGCAGCACGGGCTCTTCGCCGGCTCGGCGAGCAGCCTGCATGCTCCAGCTGGCATCCCCGAGCCCCCTAGCTACTTGCTGTTTCCCGGGCTGCATGAGCAGGGCGCTGGGCACCCGTCGCCCACAGGGCACGTGGACAACAACCAGGTCCACCTGGGGCTGCGTGGGGAGCTGTTCGGCCGTGCTGACCCATACCGCCCAGTGGCCAGCCCGCGCACGGACCCCTACGCGG... | TGGCGCTGCCTCTGCCGCCTTCAACTCAACGCGCGAGTTTCTGTTCCGCCAGCGCAGCTCCGGGCTCAGTGAGGCGGCCTCGGGTGGCGGGCAGCACGGGCTCTTCGCCGGCTCGGCGAGCAGCCTGCATGCTCCAGCTGGCATCCCCGAGCCCCCTAGCTACTTGCTGTTTCCCGGGCTGCATGAGCAGGGCGCTGGGCACCCGTCGCCCACAGGGCACGTGGACAACAACCAGGTCCACCTGGGGCTGCGTGGGGAGCTGTTCGGCCGTGCTGACCCATACCGCCCAGTGGCCAGCCCGCGCACGGACCCCTACGCGG... |
Task1_train_31170 | The following genetic variant occurs in FGF13 (fibroblast growth factor 13) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CTTAAGCTGAGGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAA... | CTTAAGCTGAGGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAA... |
Task1_train_31171 | This is a variant in FGF13 (fibroblast growth factor 13), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 90 | AGGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAAATGGCTATT... | AGGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAAATGGCTATT... |
Task1_train_31172 | Consider a variant on Chromosome X in gene FGF13 (fibroblast growth factor 13). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 90 | GGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAAATGGCTATTC... | GGCTCTGCAAAGAGAACAATGATTTGGATCAATTGATAAATTGTGCCTATGTAGTTGAAAAGACTAGGAATTTCAATTTCTAATTTCATTTACAAATCTTAATGGAAAAAGTCAAACTACACTTTTAAGGTGTCTGGAAGAAAGAAAACAAACTCTGAGTTTCAGAATAAATTTTCAAACTAAAGAAACATTTTATTTCTATCTGGAAACATTGGTAAAGCTTCTGAAAGTGTCTATAGTTTCTGATAACCTGTCCTTTGGTTTACAGAGTGGAACTCTATCTCACTGAGTATTTGTAATGGGTTGGCAAATGGCTATTC... |
Task1_train_31173 | A genomic change on Chromosome X affects F9 (coagulation factor IX). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary factor IX deficiency disease | GGCAACCTAAAGAATGGGAGAAAAATTTTGCAATCTACTCATCTGTCCAAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAG... | GGCAACCTAAAGAATGGGAGAAAAATTTTGCAATCTACTCATCTGTCCAAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAG... |
Task1_train_31174 | 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 | AAAATTTTGCAATCTACTCATCTGTCCAAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGT... | AAAATTTTGCAATCTACTCATCTGTCCAAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGT... |
Task1_train_31175 | 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; not specified | AAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGT... | AAGGGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGT... |
Task1_train_31176 | A variant was discovered on Chromosome X, affecting F9 (coagulation factor IX). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | GGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA... | GGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA... |
Task1_train_31177 | 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 | GGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA... | GGCTAATACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA... |
Task1_train_31178 | This mutation is located in gene F9 (coagulation factor IX) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary factor IX deficiency disease | TACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG... | TACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG... |
Task1_train_31179 | This mutation occurs in F9 (coagulation factor IX) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | TACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG... | TACCTAGAATCTAAAATGAACTCAAACAAATTTACAGAAAAAAACAAACAACCCCATCAACAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCAGCATCACCGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACAAGTTAGAATGGCGATCATCAAAAACTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG... |
Task1_train_31180 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Warfarin sensitivity, X-linked | TTTAGGGGCTAGGATTGCAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGT... | TTTAGGGGCTAGGATTGCAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGT... |
Task1_train_31181 | A sequence alteration has been identified in F9 (coagulation factor IX) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor IX deficiency disease | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... |
Task1_train_31182 | Gene F9 (coagulation factor IX), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... |
Task1_train_31183 | This variant impacts the gene F9 (coagulation factor IX) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor IX deficiency disease | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... |
Task1_train_31184 | A variant was discovered on Chromosome X, affecting F9 (coagulation factor IX). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... | CAGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCA... |
Task1_train_31185 | The gene F9 (coagulation factor IX), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary factor IX deficiency disease | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... |
Task1_train_31186 | This sequence variant lies in F9 (coagulation factor IX) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... |
Task1_train_31187 | Given a variant located on Chromosome X and affecting F9 (coagulation factor IX), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary factor IX deficiency disease | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... |
Task1_train_31188 | This mutation occurs in F9 (coagulation factor IX) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... |
Task1_train_31189 | Gene F9 (coagulation factor IX), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... | AGGGTGGGCACAGCATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCAC... |
Task1_train_31190 | The variant affects gene F9 (coagulation factor IX), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary factor IX deficiency disease | ATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTG... | ATTGCAAACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTG... |
Task1_train_31191 | This mutation is located in gene F9 (coagulation factor IX) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary factor IX deficiency disease | AACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGAC... | AACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGAC... |
Task1_train_31192 | A mutation on Chromosome X affecting F9 (coagulation factor IX) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGAC... | AACGAGTGAAGGAAATTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGAC... |
Task1_train_31193 | 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; Warfarin sensitivity, X-linked | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... |
Task1_train_31194 | A genomic change on Chromosome X affects F9 (coagulation factor IX). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary factor IX deficiency disease | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... |
Task1_train_31195 | 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; Thrombophilia, X-linked, due to factor 9 defect | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... |
Task1_train_31196 | With a mutation on Chromosome X in gene F9 (coagulation factor IX), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary factor IX deficiency disease | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... |
Task1_train_31197 | A mutation in F9 (coagulation factor IX), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... | TTGAGAAATATGGCCAATGAAGAGTTGAAGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT... |
Task1_train_31198 | Given this context: Chromosome X, gene F9 (coagulation factor IX) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary factor IX deficiency disease | AGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAG... | AGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAG... |
Task1_train_31199 | This variant lies on Chromosome X and affects the gene F9 (coagulation factor IX). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAG... | AGAGAGGCCTGGCATGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAG... |
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