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_18300 | This is a variant in PAH (phenylalanine hydroxylase), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Phenylketonuria | TGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCT... | TGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCT... |
Task1_train_18301 | Given a variant located on Chromosome 12 and affecting PAH (phenylalanine hydroxylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Phenylketonuria | TGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTG... | TGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTG... |
Task1_train_18302 | This alteration in PAH (phenylalanine hydroxylase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Phenylketonuria | AAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGT... | AAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGT... |
Task1_train_18303 | This alteration occurs within gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | AAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGT... | AAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGT... |
Task1_train_18304 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phenylketonuria | CAGCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTG... | CAGCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTG... |
Task1_train_18305 | The gene PAH (phenylalanine hydroxylase), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Phenylketonuria | GCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAA... | GCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAA... |
Task1_train_18306 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | CCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGA... | CCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGA... |
Task1_train_18307 | An alteration has been detected in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Phenylketonuria | CATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCC... | CATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCC... |
Task1_train_18308 | A change on Chromosome 12 affects gene PAH (phenylalanine hydroxylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Phenylketonuria | GTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGG... | GTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGG... |
Task1_train_18309 | A genomic change on Chromosome 12 affects PAH (phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | CCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGC... | CCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGC... |
Task1_train_18310 | The following genetic variant occurs in PAH (phenylalanine hydroxylase) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Phenylketonuria | CTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCC... | CTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCC... |
Task1_train_18311 | The gene PAH (phenylalanine hydroxylase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Phenylketonuria | TTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCCA... | TTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCCA... |
Task1_train_18312 | This is a variant in PAH (phenylalanine hydroxylase), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Phenylketonuria | TTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCCA... | TTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAACTCACCTGAGGCCA... |
Task1_train_18313 | A variant was discovered in gene WASHC4 (WASH complex subunit 4), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, autosomal recessive 43 | AAGGGTTATCATAAGAAGATCATAATGATAAGAGAATGAAAGTCATTTCTTTATGGAAGAATGCTTGTTAAATTTAGGGGGGAAATTGTAACCATCACTGTAATACTTGAAATCAAGCAAGAATCCCCAGTGGTTTCTAAAACATTAGGTGAAAAGTTTTTAGAGAACAGAGGATTCATTCAGTAATTCATCCCATAAAATTGCTTATTAATTACAAAGGAGAAAACTGTCTTTACAGTGGAGAAATATATTCCACCTTGGCCAAGTGATCAAACTTAGCATCACCAGTAATGGAGCAGACAGATGTAATGTGGCCTCTT... | AAGGGTTATCATAAGAAGATCATAATGATAAGAGAATGAAAGTCATTTCTTTATGGAAGAATGCTTGTTAAATTTAGGGGGGAAATTGTAACCATCACTGTAATACTTGAAATCAAGCAAGAATCCCCAGTGGTTTCTAAAACATTAGGTGAAAAGTTTTTAGAGAACAGAGGATTCATTCAGTAATTCATCCCATAAAATTGCTTATTAATTACAAAGGAGAAAACTGTCTTTACAGTGGAGAAATATATTCCACCTTGGCCAAGTGATCAAACTTAGCATCACCAGTAATGGAGCAGACAGATGTAATGTGGCCTCTT... |
Task1_train_18314 | A variant found in Chromosome 12 affects WASHC4 (WASH complex subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Intellectual disability, autosomal recessive 43 | ATAACTTTAGCTGTTATTATAGTTTTTTCTAACACATTTCTTAAAGCATATTGTTTCAAGATAACTTCTTTCTATTCAGTAGTAAATACTAACATCTGGACTAAATTTTTAATGCTTCTTAGAGTATGTAACGTGTTCTTGCTCTAACTCTGTAGTTGCTATCTAAAAATAGTTCAAGTTATCAAAAATTGCATTATAAAAACAGCTGTTCCATTAGGGAAAATGGAGTTAAGAATTTTTGAGAGGTATATATTAGTAATAAGAGTTGTTTTGGCTTAAGGTTCCTATAAAGTTTAAAAAAAATTGTAAGTAGATAGCTT... | ATAACTTTAGCTGTTATTATAGTTTTTTCTAACACATTTCTTAAAGCATATTGTTTCAAGATAACTTCTTTCTATTCAGTAGTAAATACTAACATCTGGACTAAATTTTTAATGCTTCTTAGAGTATGTAACGTGTTCTTGCTCTAACTCTGTAGTTGCTATCTAAAAATAGTTCAAGTTATCAAAAATTGCATTATAAAAACAGCTGTTCCATTAGGGAAAATGGAGTTAAGAATTTTTGAGAGGTATATATTAGTAATAAGAGTTGTTTTGGCTTAAGGTTCCTATAAAGTTTAAAAAAAATTGTAAGTAGATAGCTT... |
Task1_train_18315 | A variant has been detected on Chromosome 12 in POLR3B (RNA polymerase III subunit B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | GAACAATCTAGTCAGTATTTGTAGAAGTTCCTTTAATTTGAGTTTGTATGACGTCTGATTGGGTTATACATTTTTGGCAAGAATACCACAGAAGCAATGTTTTATGCTGTTCTCACTGATTCGTATTGGGGTTACAGATGCCAATATATTTTATTACTAATGATTTTAACTTTGTTCACTTGATTAAGGTAGGATCTTCCAGATTTCTCCACTGAAAGGTTACTATTTTTCCTTTTGTAATTAATAAGTATCTTATAGGGACATTCTTTGAGACTATGCAAATACCGTTTCTCATCATAATTTCACCAACAGTTTTAGCA... | GAACAATCTAGTCAGTATTTGTAGAAGTTCCTTTAATTTGAGTTTGTATGACGTCTGATTGGGTTATACATTTTTGGCAAGAATACCACAGAAGCAATGTTTTATGCTGTTCTCACTGATTCGTATTGGGGTTACAGATGCCAATATATTTTATTACTAATGATTTTAACTTTGTTCACTTGATTAAGGTAGGATCTTCCAGATTTCTCCACTGAAAGGTTACTATTTTTCCTTTTGTAATTAATAAGTATCTTATAGGGACATTCTTTGAGACTATGCAAATACCGTTTCTCATCATAATTTCACCAACAGTTTTAGCA... |
Task1_train_18316 | This sequence change occurs on Chromosome 12, altering POLR3B (RNA polymerase III subunit B). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AAAAAGGGGAGTGAAATGAGTTAGAGTTCAATCCCAAGGGGGTGATGGACTGTACCTCTAATCGAGTGGCATTATACAGTTCAGTAGGGGCATTTTCCGTAAATATCCATATTTATTTCTACTTATAAATGTCTTGGGAGAATCTACTACCAGTGTTTATGCAAAAGGAAAATGTGAAATGGGCTTTGTTGAAAATTGAAAATTTTGTTAGTGAAAGTTTGCTTTATTTTTCTCATTAACAAGAAAGATAACTACAACTAGAAGAGTTAGATGTTCCATGTAACTTGCCACATTAAGATTAGAACAATAAAATGTAAATT... | AAAAAGGGGAGTGAAATGAGTTAGAGTTCAATCCCAAGGGGGTGATGGACTGTACCTCTAATCGAGTGGCATTATACAGTTCAGTAGGGGCATTTTCCGTAAATATCCATATTTATTTCTACTTATAAATGTCTTGGGAGAATCTACTACCAGTGTTTATGCAAAAGGAAAATGTGAAATGGGCTTTGTTGAAAATTGAAAATTTTGTTAGTGAAAGTTTGCTTTATTTTTCTCATTAACAAGAAAGATAACTACAACTAGAAGAGTTAGATGTTCCATGTAACTTGCCACATTAAGATTAGAACAATAAAATGTAAATT... |
Task1_train_18317 | Given this variant in gene POLR3B (RNA polymerase III subunit B) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease, demyelinating, IIA 1I | GGAGTGAAATGAGTTAGAGTTCAATCCCAAGGGGGTGATGGACTGTACCTCTAATCGAGTGGCATTATACAGTTCAGTAGGGGCATTTTCCGTAAATATCCATATTTATTTCTACTTATAAATGTCTTGGGAGAATCTACTACCAGTGTTTATGCAAAAGGAAAATGTGAAATGGGCTTTGTTGAAAATTGAAAATTTTGTTAGTGAAAGTTTGCTTTATTTTTCTCATTAACAAGAAAGATAACTACAACTAGAAGAGTTAGATGTTCCATGTAACTTGCCACATTAAGATTAGAACAATAAAATGTAAATTATATATA... | GGAGTGAAATGAGTTAGAGTTCAATCCCAAGGGGGTGATGGACTGTACCTCTAATCGAGTGGCATTATACAGTTCAGTAGGGGCATTTTCCGTAAATATCCATATTTATTTCTACTTATAAATGTCTTGGGAGAATCTACTACCAGTGTTTATGCAAAAGGAAAATGTGAAATGGGCTTTGTTGAAAATTGAAAATTTTGTTAGTGAAAGTTTGCTTTATTTTTCTCATTAACAAGAAAGATAACTACAACTAGAAGAGTTAGATGTTCCATGTAACTTGCCACATTAAGATTAGAACAATAAAATGTAAATTATATATA... |
Task1_train_18318 | This sequence change occurs on Chromosome 12, altering POLR3B (RNA polymerase III subunit B). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AATTACTTTTCCTTGCTTCCTCACCCATGATTTTCAGGTCAAAAGAGCTATTTTGAGTAGTTCTTTTGCTCCTAAAGAAAACTGCTTTACCTCCCTGATAGAACTGCTTATTACAAAAATCAGTAGCAGGCCTAGTTACAGGTGTGCCCCACTCTAGGCAACAGAAAAAGATCAACCTTTAAAATTCTTAATGTTGCTATTAGAAGAATGCTTTTACCAAATACATTTTTCTCAAAGGAGCATTTTTAGCCCTCTTGTCTGTTTCTCGTCTCTCCCTTTTGTAATACTCCTACAGAATACAAGAACAAATTCTCTTGCTG... | AATTACTTTTCCTTGCTTCCTCACCCATGATTTTCAGGTCAAAAGAGCTATTTTGAGTAGTTCTTTTGCTCCTAAAGAAAACTGCTTTACCTCCCTGATAGAACTGCTTATTACAAAAATCAGTAGCAGGCCTAGTTACAGGTGTGCCCCACTCTAGGCAACAGAAAAAGATCAACCTTTAAAATTCTTAATGTTGCTATTAGAAGAATGCTTTTACCAAATACATTTTTCTCAAAGGAGCATTTTTAGCCCTCTTGTCTGTTTCTCGTCTCTCCCTTTTGTAATACTCCTACAGAATACAAGAACAAATTCTCTTGCTG... |
Task1_train_18319 | This alteration in POLR3B (RNA polymerase III subunit B) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | GTGTAACCCAAGTGCTGTCTCGCTTGTCATATATATCCGCACTGGGCATGATGACAAGAATCTCTTCCCAGTTTGAAAAAACGAGAAAAGTGAGTGGTCCTCGCTCCCTCCAGCCATCTCAGTGGGGAATGCTGTGTCCTTCGGACACTCCTGAAGGAGAGGTAAGGAATCTGAGGAGTCTTGATGCTGTGTAAGAGGCGATACCTATGTCTGTGCATGGGGTGGGGTGGGGAGGTCTGCTTCTGTTCCCATCTCCAGGCCATATCCTTTCTTTGGTCTGTCATTTATCTGGCAAATAAATATTGACATGCTTGGAAGAC... | GTGTAACCCAAGTGCTGTCTCGCTTGTCATATATATCCGCACTGGGCATGATGACAAGAATCTCTTCCCAGTTTGAAAAAACGAGAAAAGTGAGTGGTCCTCGCTCCCTCCAGCCATCTCAGTGGGGAATGCTGTGTCCTTCGGACACTCCTGAAGGAGAGGTAAGGAATCTGAGGAGTCTTGATGCTGTGTAAGAGGCGATACCTATGTCTGTGCATGGGGTGGGGTGGGGAGGTCTGCTTCTGTTCCCATCTCCAGGCCATATCCTTTCTTTGGTCTGTCATTTATCTGGCAAATAAATATTGACATGCTTGGAAGAC... |
Task1_train_18320 | This sequence variant lies in POLR3B (RNA polymerase III subunit B) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TCATCTGAAAGAGTTTTTCAGTCTGTCTTTATTTACCTTTCGTGACCAAGAAACTTAAGGGCACTGGCCAGTTATTTTATACAGTCTCTCATTTCAGGCCAGAAGTTTTATATTTTTATGTAGCTGCATTTATTAATGTTTTCCTTTACTTATTTTATACAATGTCATCATAATGACTGTAATGTTCCAATGTCTGGGAGTAATTGTTAATGTAATCAGTTTTGTTGGGCATTTATGATGTCGTCAGCATTTACAATTACAAATAGTACTGTGCTGAGCATTTCTGTATCTAAATCTATTTTATATCCTTGCTTGTTATG... | TCATCTGAAAGAGTTTTTCAGTCTGTCTTTATTTACCTTTCGTGACCAAGAAACTTAAGGGCACTGGCCAGTTATTTTATACAGTCTCTCATTTCAGGCCAGAAGTTTTATATTTTTATGTAGCTGCATTTATTAATGTTTTCCTTTACTTATTTTATACAATGTCATCATAATGACTGTAATGTTCCAATGTCTGGGAGTAATTGTTAATGTAATCAGTTTTGTTGGGCATTTATGATGTCGTCAGCATTTACAATTACAAATAGTACTGTGCTGAGCATTTCTGTATCTAAATCTATTTTATATCCTTGCTTGTTATG... |
Task1_train_18321 | Located on Chromosome 12, this mutation impacts POLR3B (RNA polymerase III subunit B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | CCCAGAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTT... | CCCAGAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTT... |
Task1_train_18322 | This genomic variant is located on Chromosome 12, within the POLR3B (RNA polymerase III subunit B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTTAAG... | AGAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTTAAG... |
Task1_train_18323 | This alteration occurs within gene POLR3B (RNA polymerase III subunit B) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | GAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTTAAGG... | GAAGGAAGCTCTGCACTAAATATTCTTAATCAGATTTCAAGCAAAGGTATTAGAGATTCACATTTCAGTGGAACGAGCACTTTTTTCATTTTAATAACATAATAAAGTTGAATTTGCTTAATTAAATGTGTCGATTAAAACTGAAAACACAAAATGTAAGTCATCTCTCTCCTTACCCACCCCCAATATAAGTATGTCATGCTTCCTTGGTCAGTTTCTGCACCTCCTGCCCCTCTCTCCCACCTTCTCTTGATGGAGGGTGGACAGGCAGCTTCCTCCTGAGCAGACGCCAGCCTCCTCCTGCGAACTGCTGCTTAAGG... |
Task1_train_18324 | With a mutation on Chromosome 12 in gene ISCU (iron-sulfur cluster assembly enzyme), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GCAAAATAGGGTTAGGAAAAGTGGACTCGGTGCTCCTCTGCGCCGCATTCCCGCAGCGGGATTTGTGAAAGCGAACTTGAGCCCCACACTGCAGAAGCCCTGAGGTCCTGTCTCAACCAGAATCCAGCACCCAGGACAAGCCCTCCAGCGACTTCAGACCTTCCCGCTCCCGACCCCGCCCGCCCCCGAGAGGCGTGGTCAAGGCGGGGCCAGAAGGCGGACGCGTGCACGGAGCGGTAAAGCGCAGGCGCAAAGCTTCGGTGACGTCAGAGAGGCGCGCTCCCAGCTCGGAGCCGACTCGCAGACGCGCCCCGCCCCTC... | GCAAAATAGGGTTAGGAAAAGTGGACTCGGTGCTCCTCTGCGCCGCATTCCCGCAGCGGGATTTGTGAAAGCGAACTTGAGCCCCACACTGCAGAAGCCCTGAGGTCCTGTCTCAACCAGAATCCAGCACCCAGGACAAGCCCTCCAGCGACTTCAGACCTTCCCGCTCCCGACCCCGCCCGCCCCCGAGAGGCGTGGTCAAGGCGGGGCCAGAAGGCGGACGCGTGCACGGAGCGGTAAAGCGCAGGCGCAAAGCTTCGGTGACGTCAGAGAGGCGCGCTCCCAGCTCGGAGCCGACTCGCAGACGCGCCCCGCCCCTC... |
Task1_train_18325 | A change on Chromosome 12 affects gene UNG (uracil DNA glycosylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyper-IgM syndrome type 5 | TCAGCAACATAAGGGAGGCCGTGTGTCTACAAAAAGTAAAAAAAAAATTAGGTGGGCATAGTGGTGCACTCCTGTGGGCCCAGCTACTCTGGAGGCTCAGGTGGGAGGACCACTTGAGCCCAGGAGGGCGAGGCTGCCATGAGCTGTGATGGCACCACTGCACATCAGCCTGAGCAACACAGCAAAACCGTGTCTCAAAAAATTAAAAAAGCAGCTAGGTACATATCTTTACAAGTTTAAAATACGCTTAGCCTTTGACCAGCAACTCTGCTATTAGCAATCTATGCCATAGAAGTGTTTTATTTGTTTTGTTTATGTTT... | TCAGCAACATAAGGGAGGCCGTGTGTCTACAAAAAGTAAAAAAAAAATTAGGTGGGCATAGTGGTGCACTCCTGTGGGCCCAGCTACTCTGGAGGCTCAGGTGGGAGGACCACTTGAGCCCAGGAGGGCGAGGCTGCCATGAGCTGTGATGGCACCACTGCACATCAGCCTGAGCAACACAGCAAAACCGTGTCTCAAAAAATTAAAAAAGCAGCTAGGTACATATCTTTACAAGTTTAAAATACGCTTAGCCTTTGACCAGCAACTCTGCTATTAGCAATCTATGCCATAGAAGTGTTTTATTTGTTTTGTTTATGTTT... |
Task1_train_18326 | Gene UBE3B (ubiquitin protein ligase E3B) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculocerebrofacial syndrome, Kaufman type | CTTGGATATCAGTGATAGAGCTGGGCCTGGAAGCCAGGCATCCCTTTTCTAGCTCAGTATTCCCTGTGTGTGCATGTTGAGATGCAGTGAAGAAGAGGAACGCTGACTCACATTCACCTCCCAAGAGGCATGGATATAATCCTCGCATATCCACGCCAGTTCCCAGAAGGCAGGAAATGTATCACAAGAGGCAGTCCCCTCTAAACGTTTAAACAAAGAGGCTGGTGTGGAGCTGATCAAGCAAGACTGAGATTTGAATCCAGTAAACGCTCCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTACCATCCCATTT... | CTTGGATATCAGTGATAGAGCTGGGCCTGGAAGCCAGGCATCCCTTTTCTAGCTCAGTATTCCCTGTGTGTGCATGTTGAGATGCAGTGAAGAAGAGGAACGCTGACTCACATTCACCTCCCAAGAGGCATGGATATAATCCTCGCATATCCACGCCAGTTCCCAGAAGGCAGGAAATGTATCACAAGAGGCAGTCCCCTCTAAACGTTTAAACAAAGAGGCTGGTGTGGAGCTGATCAAGCAAGACTGAGATTTGAATCCAGTAAACGCTCCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTACCATCCCATTT... |
Task1_train_18327 | Given this variant in gene UBE3B (ubiquitin protein ligase E3B) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Oculocerebrofacial syndrome, Kaufman type | CCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTACCATCCCATTTCATCCACATAACCACAAACGCATCTACTAATGCGTGTGAAGGCTGGGGAGGCATAATTTTAAAGCAGGTTGGAGGAACTCCTGCAGGCAGACAGGAACTTGATGGAATTCTCCATCCGTTCTCATCTCAGTGCCAAGATAATTATCTTAAATTTAGGCAGAATGGTTTAAATGCTGTTACAGCTGCCTGTTGACTTCCTGTTTCTCCCTTTTGTCATCTAACTTAATGATTCTCAAACTTTATGTACATAAAAAGTCCTTCTCAGGTTTGC... | CCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTACCATCCCATTTCATCCACATAACCACAAACGCATCTACTAATGCGTGTGAAGGCTGGGGAGGCATAATTTTAAAGCAGGTTGGAGGAACTCCTGCAGGCAGACAGGAACTTGATGGAATTCTCCATCCGTTCTCATCTCAGTGCCAAGATAATTATCTTAAATTTAGGCAGAATGGTTTAAATGCTGTTACAGCTGCCTGTTGACTTCCTGTTTCTCCCTTTTGTCATCTAACTTAATGATTCTCAAACTTTATGTACATAAAAAGTCCTTCTCAGGTTTGC... |
Task1_train_18328 | This alteration occurs within gene MMAB (metabolism of cobalamin associated B) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Methylmalonic aciduria, cblB type | CAAAAAGCTTTCCTTATCCTTTGGAGGCTGTGCTTTCCCATGGCTAGGCATGCAGGGCTGCTGTGTTATTTTATATATATATATATATTCCAGGAAGATTTTGAGATTTTGAGGTGTAGACAGAATTGAGTGATTCGCTGCAAGCTCTTTGAACATACTCCCTGACCGAGCCTTAGTGATTGCGTTTTCAGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTGACGGAGTCTCACTCTATCAGCCAGGCTGGAGTGTCGTGTCACGATCTTGGCTCACTGCAGCCTCTGCCTCGTAGGTTCAAGTGATTCTCCTGCCTCAGC... | CAAAAAGCTTTCCTTATCCTTTGGAGGCTGTGCTTTCCCATGGCTAGGCATGCAGGGCTGCTGTGTTATTTTATATATATATATATATTCCAGGAAGATTTTGAGATTTTGAGGTGTAGACAGAATTGAGTGATTCGCTGCAAGCTCTTTGAACATACTCCCTGACCGAGCCTTAGTGATTGCGTTTTCAGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTGACGGAGTCTCACTCTATCAGCCAGGCTGGAGTGTCGTGTCACGATCTTGGCTCACTGCAGCCTCTGCCTCGTAGGTTCAAGTGATTCTCCTGCCTCAGC... |
Task1_train_18329 | Assess the clinical impact of this variant on gene MMAB (metabolism of cobalamin associated B), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Methylmalonic aciduria, cblB type | CCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAG... | CCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAG... |
Task1_train_18330 | A variant has been detected on Chromosome 12 in MMAB (metabolism of cobalamin associated B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | CCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAG... | CCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAG... |
Task1_train_18331 | Gene MMAB (metabolism of cobalamin associated B), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | CCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGG... | CCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGG... |
Task1_train_18332 | This is a variant in MMAB (metabolism of cobalamin associated B), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Methylmalonic aciduria, cblB type | CCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGG... | CCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGG... |
Task1_train_18333 | Here’s a variant in MMAB (metabolism of cobalamin associated B) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGGCCA... | CACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGGCCA... |
Task1_train_18334 | A variant was discovered in gene MMAB (metabolism of cobalamin associated B), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Methylmalonic aciduria, cblB type | CTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGGCCATCGGC... | CTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACAGGCCATCGGC... |
Task1_train_18335 | This mutation is located in gene MMAB (metabolism of cobalamin associated B) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Methylmalonic aciduria, cblB type | GCCAGCCAGCTTTTGTACCACTGGACCTGGGTCTGGGTGGGGTGAAGTTGGGGTGGTCTGCCTCTAGCCTTCAAAGGAAGTGGGGGCCTGACCCTTAATTCCCAATGGGCTAAACTCTAAGCCCCTTGTACATCATGACTTAGAACAACTTCACAGGGGAGAAAAAGACCCAGGCAGACCAAGCTCCTGATTCCGCAGGATTCTGGATTCCTGGGGTCCATGCCAGTCTATTTGCAGATACATTAGACACTGGACGGCCATCTGCTGGGCACCAGTGTGGTGGCGGGCCCTTGCCGAGCCTTTCCCAGGTATCACCCTGT... | GCCAGCCAGCTTTTGTACCACTGGACCTGGGTCTGGGTGGGGTGAAGTTGGGGTGGTCTGCCTCTAGCCTTCAAAGGAAGTGGGGGCCTGACCCTTAATTCCCAATGGGCTAAACTCTAAGCCCCTTGTACATCATGACTTAGAACAACTTCACAGGGGAGAAAAAGACCCAGGCAGACCAAGCTCCTGATTCCGCAGGATTCTGGATTCCTGGGGTCCATGCCAGTCTATTTGCAGATACATTAGACACTGGACGGCCATCTGCTGGGCACCAGTGTGGTGGCGGGCCCTTGCCGAGCCTTTCCCAGGTATCACCCTGT... |
Task1_train_18336 | Gene MMAB (metabolism of cobalamin associated B) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Methylmalonic aciduria, cblB type | GCTACCCAAAGCCCAGCCTCAGGGTTCTCATCCCCACCCAAAGCCATGCACCCGGCTAGCGGCCCAGGAGGGTGTGCACCCAGGCCTGTCACAGAGCTCCAGGCTGTCTCTAGTGGGCACCGCATGCTCAGCGAGGAGCTTCCTCACCCGAGGTGCCCCAGGTGTGTGTCCCCACCTCAGGACAATCTGCACCTTGCCACTGCCATGGCTGCGTAACTCTCTGCTGCATGGAGGACCTATCAGCTGCTCCGCCATGCCTGTTTTCGGGGCCTTTGGGTTGTTTCCAGTTTCTTGCTATTATGAGCACTGCTGATGGATGG... | GCTACCCAAAGCCCAGCCTCAGGGTTCTCATCCCCACCCAAAGCCATGCACCCGGCTAGCGGCCCAGGAGGGTGTGCACCCAGGCCTGTCACAGAGCTCCAGGCTGTCTCTAGTGGGCACCGCATGCTCAGCGAGGAGCTTCCTCACCCGAGGTGCCCCAGGTGTGTGTCCCCACCTCAGGACAATCTGCACCTTGCCACTGCCATGGCTGCGTAACTCTCTGCTGCATGGAGGACCTATCAGCTGCTCCGCCATGCCTGTTTTCGGGGCCTTTGGGTTGTTTCCAGTTTCTTGCTATTATGAGCACTGCTGATGGATGG... |
Task1_train_18337 | Located on Chromosome 12, this mutation impacts MMAB (metabolism of cobalamin associated B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methylmalonic aciduria, cblB type | TTGAGCAGCGCCTCGCACTGCAGATGCTTGGTCAATATCTGACCAAGGAAGAATCCACAACTGAGGTTTCTCCAACCTCCCGCTCCTCCTCAACTGAGAGACGATGGCTCGTGTTTTAGAGCTCATTAGAATAGCTGATGCGAGAACTGGCCTTTTCTCCCTTTGCCCACTTGGTCTTGTGTCTGCCCTCTTCTGGACCCCCTCCCACACACACCAAGGGGTTTGTTTGCCTTCTCTACCCGGCTGGCTGACTATCTGTACCTCCCATTATCTGTCCCGAAAATCTCACCTAGTCAGGCCCGCCATGGAGAAATGGTAGC... | TTGAGCAGCGCCTCGCACTGCAGATGCTTGGTCAATATCTGACCAAGGAAGAATCCACAACTGAGGTTTCTCCAACCTCCCGCTCCTCCTCAACTGAGAGACGATGGCTCGTGTTTTAGAGCTCATTAGAATAGCTGATGCGAGAACTGGCCTTTTCTCCCTTTGCCCACTTGGTCTTGTGTCTGCCCTCTTCTGGACCCCCTCCCACACACACCAAGGGGTTTGTTTGCCTTCTCTACCCGGCTGGCTGACTATCTGTACCTCCCATTATCTGTCCCGAAAATCTCACCTAGTCAGGCCCGCCATGGAGAAATGGTAGC... |
Task1_train_18338 | Consider this mutation in MMAB (metabolism of cobalamin associated B) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Methylmalonic aciduria, cblB type | AGCAGCGCCTCGCACTGCAGATGCTTGGTCAATATCTGACCAAGGAAGAATCCACAACTGAGGTTTCTCCAACCTCCCGCTCCTCCTCAACTGAGAGACGATGGCTCGTGTTTTAGAGCTCATTAGAATAGCTGATGCGAGAACTGGCCTTTTCTCCCTTTGCCCACTTGGTCTTGTGTCTGCCCTCTTCTGGACCCCCTCCCACACACACCAAGGGGTTTGTTTGCCTTCTCTACCCGGCTGGCTGACTATCTGTACCTCCCATTATCTGTCCCGAAAATCTCACCTAGTCAGGCCCGCCATGGAGAAATGGTAGCCAG... | AGCAGCGCCTCGCACTGCAGATGCTTGGTCAATATCTGACCAAGGAAGAATCCACAACTGAGGTTTCTCCAACCTCCCGCTCCTCCTCAACTGAGAGACGATGGCTCGTGTTTTAGAGCTCATTAGAATAGCTGATGCGAGAACTGGCCTTTTCTCCCTTTGCCCACTTGGTCTTGTGTCTGCCCTCTTCTGGACCCCCTCCCACACACACCAAGGGGTTTGTTTGCCTTCTCTACCCGGCTGGCTGACTATCTGTACCTCCCATTATCTGTCCCGAAAATCTCACCTAGTCAGGCCCGCCATGGAGAAATGGTAGCCAG... |
Task1_train_18339 | Given this context: Chromosome 12, gene MMAB, MVK (metabolism of cobalamin associated B| mevalonate kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Methylmalonic aciduria, cblB type | TAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTCAAATTCCTGGCCTCAGATGATTAGCCCAACAGGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCGCGCCTGGTATATTATACTTTAAAGTGGCTGCAAAGAATTTGGAAGAACTTTAAAATGGTGTATGCCATGAGTATTTCTTTGCATTTTTCACCTGTCCCCACCCTACCTTTGTCTCCCGTTTTGGTGTAAATCTTGGGGATCCTGGGTGTCTTCGAGGAAGGCTGTGGCCTAATGAGAAATAAACATCAGTATCTGGTGAGTGGGGATG... | TAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTCAAATTCCTGGCCTCAGATGATTAGCCCAACAGGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCGCGCCTGGTATATTATACTTTAAAGTGGCTGCAAAGAATTTGGAAGAACTTTAAAATGGTGTATGCCATGAGTATTTCTTTGCATTTTTCACCTGTCCCCACCCTACCTTTGTCTCCCGTTTTGGTGTAAATCTTGGGGATCCTGGGTGTCTTCGAGGAAGGCTGTGGCCTAATGAGAAATAAACATCAGTATCTGGTGAGTGGGGATG... |
Task1_train_18340 | This variant affects gene MVK (mevalonate kinase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... |
Task1_train_18341 | This variant impacts the gene MVK (mevalonate kinase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mevalonic aciduria | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... |
Task1_train_18342 | Chromosome 12 houses a mutation in gene MVK (mevalonate kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hyperimmunoglobulin D with periodic fever | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... | AAAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGA... |
Task1_train_18343 | The following genetic variant occurs in MVK (mevalonate kinase) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mevalonic aciduria | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... |
Task1_train_18344 | This sequence change occurs on Chromosome 12, altering MVK (mevalonate kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperimmunoglobulin D with periodic fever | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... |
Task1_train_18345 | Assess the clinical impact of this variant on gene MVK (mevalonate kinase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... | AAAGTGGCATTTTCAAAAAACAATGTAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGAC... |
Task1_train_18346 | This variant affects the gene MVK (mevalonate kinase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | ATCGGCGACCTCAATCTGACAGTCGTGATTTTGAGCTTGACAAGCAAGGGGATTCCCCGCTCTGAGCCTCAGTTTTTCTAAGAAATGGGGATCACGATAGTACTTAGCTCATAGTACACCTGAATCTTAGCGTAAGGTAATCTACGTAAAGCCTTAAGCGGAGGATAATTTTGCGTTATGTATAAAAGTGTAAATTGCACACACCTATAGACCCTGCAAGCTCCTTTCTAGGACTCTGTCCTGCAGAAATACTCATTTAAGTGTGCAAAACGAGGCGTACTGGGTGTTTTCTGCAGCCTTGTTTATAATTGTGACACATT... | ATCGGCGACCTCAATCTGACAGTCGTGATTTTGAGCTTGACAAGCAAGGGGATTCCCCGCTCTGAGCCTCAGTTTTTCTAAGAAATGGGGATCACGATAGTACTTAGCTCATAGTACACCTGAATCTTAGCGTAAGGTAATCTACGTAAAGCCTTAAGCGGAGGATAATTTTGCGTTATGTATAAAAGTGTAAATTGCACACACCTATAGACCCTGCAAGCTCCTTTCTAGGACTCTGTCCTGCAGAAATACTCATTTAAGTGTGCAAAACGAGGCGTACTGGGTGTTTTCTGCAGCCTTGTTTATAATTGTGACACATT... |
Task1_train_18347 | Given this context: Chromosome 12, gene MVK (mevalonate kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mevalonic aciduria | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... |
Task1_train_18348 | A variant affecting Chromosome 12, within the gene MVK (mevalonate kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... |
Task1_train_18349 | This variant affects the gene MVK (mevalonate kinase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hyperimmunoglobulin D with periodic fever | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... |
Task1_train_18350 | Mutation context: Chromosome 12, Gene MVK (mevalonate kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mevalonic aciduria | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... |
Task1_train_18351 | Given this context: Chromosome 12, gene MVK (mevalonate kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinal dystrophy | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... | GTCTCAAACTCCTAGGCACAAGTGATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTT... |
Task1_train_18352 | A mutation found in MVK (mevalonate kinase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCC... | ATCTGCCCACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCC... |
Task1_train_18353 | Gene MVK (mevalonate kinase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinal dystrophy | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... |
Task1_train_18354 | The gene MVK (mevalonate kinase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... |
Task1_train_18355 | An alteration has been detected in MVK (mevalonate kinase) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyperimmunoglobulin D with periodic fever | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... |
Task1_train_18356 | An alteration has been detected in MVK (mevalonate kinase) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mevalonic aciduria | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... | GGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCCAGTGACTAGTCGATTTTCTGTGTTC... |
Task1_train_18357 | A genetic alteration is present in MVK (mevalonate kinase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mevalonic aciduria | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... |
Task1_train_18358 | A variant was discovered on Chromosome 12, affecting MVK (mevalonate kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... |
Task1_train_18359 | A variant was discovered on Chromosome 12, affecting MVK (mevalonate kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... |
Task1_train_18360 | A genetic alteration is present in MVK (mevalonate kinase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mevalonic aciduria | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... | CTACTAAAAATACAAACATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGA... |
Task1_train_18361 | A mutation on Chromosome 12 affecting MVK (mevalonate kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | TGTTGGGAGAGGAGAAAAAATCAGTTGTCTGTGAGAGCATATCAGGCAGTCTTAAGCACCTTTAGGAAACAAGGCAGGGTCAGAGGCTACAAAGAGAAGGAGGGGTCCGATTGGATGGGGGTTCGGGGGCTGCTGGTGAAGGAACATTGAGCAGAAACCTGAATAAGTCACGCCGCTATGGGGCGGGGCTGGTCCCTGGCAGAGGAAGCGCGGTGCAAAGGTCCTGAGACGAGCACGCTGCCTGCCGTGTGACACAGTAGCTGGGAGGTCAGAGTGGCTGAGTGGAGTGAGCAGCCTGGGGAGCGAGGAGAGAAGAAGAG... | TGTTGGGAGAGGAGAAAAAATCAGTTGTCTGTGAGAGCATATCAGGCAGTCTTAAGCACCTTTAGGAAACAAGGCAGGGTCAGAGGCTACAAAGAGAAGGAGGGGTCCGATTGGATGGGGGTTCGGGGGCTGCTGGTGAAGGAACATTGAGCAGAAACCTGAATAAGTCACGCCGCTATGGGGCGGGGCTGGTCCCTGGCAGAGGAAGCGCGGTGCAAAGGTCCTGAGACGAGCACGCTGCCTGCCGTGTGACACAGTAGCTGGGAGGTCAGAGTGGCTGAGTGGAGTGAGCAGCCTGGGGAGCGAGGAGAGAAGAAGAG... |
Task1_train_18362 | Chromosome 12 houses a mutation in gene MVK (mevalonate kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mevalonic aciduria | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... |
Task1_train_18363 | A variant on Chromosome 12 in gene MVK (mevalonate kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mevalonic aciduria | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... |
Task1_train_18364 | A variant found in Chromosome 12 affects MVK (mevalonate kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... |
Task1_train_18365 | This alteration in MVK (mevalonate kinase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hyperimmunoglobulin D with periodic fever | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... | GGATCTGGTGGGGCTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGC... |
Task1_train_18366 | This variant affects gene MVK (mevalonate kinase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; MVK-related disorder | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18367 | A genomic change on Chromosome 12 affects MVK (mevalonate kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mevalonic aciduria | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18368 | This mutation occurs in MVK (mevalonate kinase) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18369 | This gene mutation involves MVK (mevalonate kinase) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autoinflammatory syndrome | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18370 | A variant has been detected on Chromosome 12 in MVK (mevalonate kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18371 | A genomic change on Chromosome 12 affects MVK (mevalonate kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18372 | This sequence variant lies in MVK (mevalonate kinase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mevalonic aciduria | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18373 | This variant lies on Chromosome 12 and affects the gene MVK (mevalonate kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18374 | This alteration in MVK (mevalonate kinase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18375 | A genomic change on Chromosome 12 affects MVK (mevalonate kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18376 | Here is a variant affecting MVK (mevalonate kinase) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mevalonic aciduria | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18377 | This gene mutation involves MVK (mevalonate kinase) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; not specified | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... | CTGGTGACAGGCCTGTCTGCAGAGGACTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGG... |
Task1_train_18378 | Given this context: Chromosome 12, gene MVK (mevalonate kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... |
Task1_train_18379 | The gene MVK (mevalonate kinase), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... |
Task1_train_18380 | The gene MVK (mevalonate kinase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mevalonic aciduria | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... | CTTGTCTAAGAAAGATGAAGATGCAACACCCAAACTCCTCCCGCCTGGCTAGATGGGAGCATGGAGCAAACCAACCTTTGCTGCCTGCTGTGGGGTGCCACGGGAGCAGATGGCGGCTTCACAGAGAAGCTGGGGGCCAGACTCCACGTTAATCCCATGGATGGCTTAAGGAGCTTCCCCCCACCAACCATGCGTGGTGCCTCTCTGTAAAGAAAAAATGCATTGTTTGTGAAGTGGATCAAGATGCGGCCTCCCAGAACGCTGCCCTTTTGAGGAATGGCTTGTCTTAGAAGGGAAGAGAAAAGCCAAATAGAATGTTC... |
Task1_train_18381 | This variant impacts the gene MVK (mevalonate kinase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mevalonic aciduria | TTTTTGGCTGTGGCAGCCGCTGAAATGTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGG... | TTTTTGGCTGTGGCAGCCGCTGAAATGTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGG... |
Task1_train_18382 | A genomic change on Chromosome 12 affects MVK (mevalonate kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperimmunoglobulin D with periodic fever | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... |
Task1_train_18383 | Given this context: Chromosome 12, gene MVK (mevalonate kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... |
Task1_train_18384 | The gene MVK (mevalonate kinase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mevalonic aciduria | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... |
Task1_train_18385 | This sequence change occurs on Chromosome 12, altering MVK (mevalonate kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autoinflammatory syndrome | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... | GTGCAGCTCAGCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCT... |
Task1_train_18386 | This is a variant in MVK (mevalonate kinase), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... |
Task1_train_18387 | Here is a genetic alteration in MVK (mevalonate kinase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hyperimmunoglobulin D with periodic fever | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... |
Task1_train_18388 | Assess the clinical impact of this variant on gene MVK (mevalonate kinase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mevalonic aciduria | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... | CTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGA... |
Task1_train_18389 | Given this variant in gene MVK (mevalonate kinase) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hyperimmunoglobulin D with periodic fever | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... |
Task1_train_18390 | The following genetic variant occurs in MVK (mevalonate kinase) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... |
Task1_train_18391 | The gene MVK (mevalonate kinase) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mevalonic aciduria | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... | CAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGT... |
Task1_train_18392 | The gene MVK (mevalonate kinase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18393 | A variant was discovered on Chromosome 12, affecting MVK (mevalonate kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyperimmunoglobulin D with periodic fever | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18394 | A variant was discovered on Chromosome 12, affecting MVK (mevalonate kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyperimmunoglobulin D with periodic fever | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18395 | A variant on Chromosome 12 in gene MVK (mevalonate kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mevalonic aciduria | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18396 | Assess the clinical impact of this variant on gene MVK (mevalonate kinase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18397 | A mutation on Chromosome 12 affecting MVK (mevalonate kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hyperimmunoglobulin D with periodic fever | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18398 | This alteration in MVK (mevalonate kinase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mevalonic aciduria | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... | GATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCC... |
Task1_train_18399 | This alteration occurs within gene MVK (mevalonate kinase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCCTGGTATACAGGCAATCCAGGTGCCCCGGAACAGAGCTTCA... | GGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGGCCATCCCCATGCGGGAGAGCTAGGTGGGCCTCCGCAGAGATGCCTCAGTGATTGGCAACTCCTGGTATACAGGCAATCCAGGTGCCCCGGAACAGAGCTTCA... |
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