ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_10300 | A variant has been detected on Chromosome 6 in PRPH2 (peripherin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; PRPH2-related disorder | TTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCA... | TTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCA... |
Task1_train_10301 | A mutation found in PRPH2 (peripherin 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; PRPH2-related disorder | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... |
Task1_train_10302 | This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinal dystrophy | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... |
Task1_train_10303 | The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; PRPH2-related disorder | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... | TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCAT... |
Task1_train_10304 | This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCA... | TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCA... |
Task1_train_10305 | A sequence alteration has been identified in PRPH2 (peripherin 2) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; PRPH2-related disorder | TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCA... | TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCA... |
Task1_train_10306 | This mutation is located in gene PRPH2 (peripherin 2) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PRPH2-related disorder | AACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCAC... | AACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCAC... |
Task1_train_10307 | This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCA... | GCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCA... |
Task1_train_10308 | This alteration occurs within gene PRPH2 (peripherin 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAA... | ATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAA... |
Task1_train_10309 | Gene PRPH2 (peripherin 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PRPH2-related disorder | ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGA... | ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGA... |
Task1_train_10310 | Gene PRPH2 (peripherin 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGA... | ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGA... |
Task1_train_10311 | A variant found in Chromosome 6 affects PRPH2 (peripherin 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PRPH2-related disorder | GGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAAT... | GGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAAT... |
Task1_train_10312 | A genetic alteration is present in PRPH2 (peripherin 2) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Vitelliform macular dystrophy 3 | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10313 | This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; PRPH2-related disorder | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10314 | Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Patterned dystrophy of the retinal pigment epithelium | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10315 | This variant affects gene PRPH2 (peripherin 2) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10316 | Given this variant in gene PRPH2 (peripherin 2) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa 7 | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10317 | A mutation in PRPH2 (peripherin 2), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Stargardt disease | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... | TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCC... |
Task1_train_10318 | This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; PRPH2-related disorder | TCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTA... | TCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTA... |
Task1_train_10319 | This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGG... | AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGG... |
Task1_train_10320 | Here is a variant affecting PRPH2 (peripherin 2) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; PRPH2-related disorder | AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGG... | AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGG... |
Task1_train_10321 | This is a variant in PRPH2 (peripherin 2), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; PRPH2-related disorder | TCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGAC... | TCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGAC... |
Task1_train_10322 | Consider a variant on Chromosome 6 in gene PRPH2 (peripherin 2). Determine its clinical classification and disease relevance. | Pathogenic; PRPH2-related disorder | CCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACA... | CCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACA... |
Task1_train_10323 | The gene PRPH2 (peripherin 2) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGAC... | GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGAC... |
Task1_train_10324 | Here is a mutation in PRPH2 (peripherin 2) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; PRPH2-related disorder | GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGAC... | GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGAC... |
Task1_train_10325 | A variant was discovered on Chromosome 6, affecting PRPH2 (peripherin 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; PRPH2-related disorder | AAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTA... | AAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTA... |
Task1_train_10326 | This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; PRPH2-related disorder | ATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGC... | ATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGC... |
Task1_train_10327 | Assess the clinical impact of this variant on gene PRPH2 (peripherin 2), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pigmentary retinal dystrophy | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... |
Task1_train_10328 | The gene PRPH2 (peripherin 2) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; PRPH2-related disorder | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... |
Task1_train_10329 | A mutation in PRPH2 (peripherin 2), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinal dystrophy | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... | GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTA... |
Task1_train_10330 | An alteration has been detected in PRPH2 (peripherin 2) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; PRPH2-related disorder | GGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTAT... | GGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTAT... |
Task1_train_10331 | This gene mutation involves CNPY3, CNPY3-GNMT (canopy FGF signaling regulator 3| CNPY3-GNMT readthrough) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 60 | AGGTTGGATTCGGGATTGTCCTTCATCCGCTCTGGGGTCAGGCCTGCATGTATCTTAGTGTGTCTGCTGGTGTGAGTGTGATTTGAAGATGACCACCTGGGATCTTCCTTCATTGCCTCTTCCCATTCTTTGATTGCCGTTTGTGCTCCTCCCCTCTTGAGTGGCCTCATTTTTCAGGCACATGCATGAGGGTCTGGGCCTGTTCATGAGGGTCCTGCTTCAATCTCAGACACAGGCAGAAATGCTCCACAGTTGCTGCCCCCGTGGGAACCTAAAGACACTAGAACGGGGAGAACTCAGCAAGATCCACGATGTGCAGA... | AGGTTGGATTCGGGATTGTCCTTCATCCGCTCTGGGGTCAGGCCTGCATGTATCTTAGTGTGTCTGCTGGTGTGAGTGTGATTTGAAGATGACCACCTGGGATCTTCCTTCATTGCCTCTTCCCATTCTTTGATTGCCGTTTGTGCTCCTCCCCTCTTGAGTGGCCTCATTTTTCAGGCACATGCATGAGGGTCTGGGCCTGTTCATGAGGGTCCTGCTTCAATCTCAGACACAGGCAGAAATGCTCCACAGTTGCTGCCCCCGTGGGAACCTAAAGACACTAGAACGGGGAGAACTCAGCAAGATCCACGATGTGCAGA... |
Task1_train_10332 | The gene CNPY3-GNMT, GNMT (CNPY3-GNMT readthrough| glycine N-methyltransferase) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycine N-methyltransferase deficiency | CTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCACGTGATCCACCTGTCTTGGCTTCCTAAAGTGCTGGACAGTTTGATTTTTAAAGGCTAAACCTCCCCAGGCTCCAAGGAGCACTGGGGCCAAACAGTACCAAAGGAGAGCATCACCCGTTAACCAGGCCCCCTGCTTAGAAGAGTAGCACAGACCGGGCGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGACGCCAGT... | CTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCACGTGATCCACCTGTCTTGGCTTCCTAAAGTGCTGGACAGTTTGATTTTTAAAGGCTAAACCTCCCCAGGCTCCAAGGAGCACTGGGGCCAAACAGTACCAAAGGAGAGCATCACCCGTTAACCAGGCCCCCTGCTTAGAAGAGTAGCACAGACCGGGCGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGACGCCAGT... |
Task1_train_10333 | Consider this mutation in CNPY3-GNMT, GNMT (CNPY3-GNMT readthrough| glycine N-methyltransferase) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Glycine N-methyltransferase deficiency | GGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGT... | GGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGT... |
Task1_train_10334 | This variant affects the gene PEX6 (peroxisomal biogenesis factor 6) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Heimler syndrome 2 | TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCG... | TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCG... |
Task1_train_10335 | A mutation in PEX6 (peroxisomal biogenesis factor 6), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCG... | TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCG... |
Task1_train_10336 | A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger) | GGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGT... | GGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGT... |
Task1_train_10337 | A variant affecting Chromosome 6, within the gene PEX6 (peroxisomal biogenesis factor 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Peroxisome biogenesis disorder | GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACA... | GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACA... |
Task1_train_10338 | This is a variant in PEX6 (peroxisomal biogenesis factor 6), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger) | GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACA... | GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACA... |
Task1_train_10339 | Here is a variant affecting PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Peroxisome biogenesis disorder 4B | GAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCA... | GAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCA... |
Task1_train_10340 | An alteration has been detected in PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Paroxysmal dystonia | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10341 | This sequence change occurs on Chromosome 6, altering PEX6 (peroxisomal biogenesis factor 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cognitive impairment | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10342 | Consider a variant on Chromosome 6 in gene PEX6 (peroxisomal biogenesis factor 6). Determine its clinical classification and disease relevance. | Pathogenic; Peripheral neuropathy | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10343 | A variant was discovered in gene PEX6 (peroxisomal biogenesis factor 6), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cerebellar ataxia | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10344 | A variant found in Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Premature ovarian insufficiency | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10345 | This mutation is located in gene PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Sensorineural hearing loss disorder | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... | TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTA... |
Task1_train_10346 | A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heimler syndrome 2 | ACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAG... | ACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAG... |
Task1_train_10347 | This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Heimler syndrome 2 | TATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCAC... | TATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCAC... |
Task1_train_10348 | A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Peroxisome biogenesis disorder | ATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTC... | ATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTC... |
Task1_train_10349 | This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger) | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... |
Task1_train_10350 | This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Peroxisome biogenesis disorder 4B | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... |
Task1_train_10351 | This sequence change occurs on Chromosome 6, altering PEX6 (peroxisomal biogenesis factor 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Heimler syndrome 2 | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... |
Task1_train_10352 | This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Peroxisome biogenesis disorder | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... | TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCA... |
Task1_train_10353 | This variant lies on Chromosome 6 and affects the gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hogue-Janssens syndrome 1 | CTCTTAGCTCTTTCCTCATTAGATTCCTTTAGATTTTCACATTAGATTCTTTTCCTACTTTAGATTAGATTCCTTTAGATTTTCACATTGGATTCTTTTCCTACTTTTTTTTTTTTTTTTTTGAGATTTAGATATTATCAATTGACTTTCTACCATGGAAAATAAGTCCTCATCATTCTTATGCCTTTCTGCAGACATTTCCCTTCCTCCAAAAATACCACCATTTTGGGCAAATTACTATGAACGTGAAAATATTTTTTACAACTAAACTATGTATTACATAGTTTTCTTTTCTTTTTTTTTTTTTTGAGGCAGAGTCT... | CTCTTAGCTCTTTCCTCATTAGATTCCTTTAGATTTTCACATTAGATTCTTTTCCTACTTTAGATTAGATTCCTTTAGATTTTCACATTGGATTCTTTTCCTACTTTTTTTTTTTTTTTTTTGAGATTTAGATATTATCAATTGACTTTCTACCATGGAAAATAAGTCCTCATCATTCTTATGCCTTTCTGCAGACATTTCCCTTCCTCCAAAAATACCACCATTTTGGGCAAATTACTATGAACGTGAAAATATTTTTTACAACTAAACTATGTATTACATAGTTTTCTTTTCTTTTTTTTTTTTTTGAGGCAGAGTCT... |
Task1_train_10354 | Given this context: Chromosome 6, gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hogue-Janssens syndrome 1 | CCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTT... | CCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTT... |
Task1_train_10355 | This alteration occurs within gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; PPP2R5D-related disorder | TTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCT... | TTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCT... |
Task1_train_10356 | A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Global developmental delay | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10357 | This alteration in MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Intellectual disability | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10358 | This variant lies on Chromosome 6 and affects the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; See cases | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10359 | A variant found in Chromosome 6 affects MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10360 | A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hogue-Janssens syndrome 1 | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10361 | A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental delay | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... | ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGC... |
Task1_train_10362 | With a mutation on Chromosome 6 in gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAAT... | ATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAAT... |
Task1_train_10363 | A genomic change on Chromosome 6 affects PPP2R5D (protein phosphatase 2 regulatory subunit B'delta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTC... | AAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTC... |
Task1_train_10364 | The gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hogue-Janssens syndrome 1 | AGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCC... | AGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCC... |
Task1_train_10365 | A genetic alteration is present in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCC... | GACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCC... |
Task1_train_10366 | Given this variant in gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Seizure | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... |
Task1_train_10367 | This is a variant in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... |
Task1_train_10368 | Given this context: Chromosome 6, gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hogue-Janssens syndrome 1 | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... | GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGC... |
Task1_train_10369 | A mutation in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTG... | CGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTG... |
Task1_train_10370 | This variant affects the gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental abnormality | GGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGA... | GGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGA... |
Task1_train_10371 | The variant affects gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | CTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATA... | CTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATA... |
Task1_train_10372 | Consider a variant on Chromosome 6 in gene CUL7 (cullin 7). Determine its clinical classification and disease relevance. | Pathogenic; 3-M syndrome | TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGT... | TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGT... |
Task1_train_10373 | Consider this mutation in CUL7 (cullin 7) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; 3M syndrome 1 | TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGT... | TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGT... |
Task1_train_10374 | A mutation on Chromosome 6 affecting POLR1C (RNA polymerase I and III subunit C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypomyelinating leukodystrophy 11 | TCCAGGCGTGAGCCACCATGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAA... | TCCAGGCGTGAGCCACCATGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAA... |
Task1_train_10375 | This alteration occurs within gene POLR1C (RNA polymerase I and III subunit C) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypomyelinating leukodystrophy 11 | TGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCG... | TGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCG... |
Task1_train_10376 | Consider a variant on Chromosome 6 in gene POLR1C (RNA polymerase I and III subunit C). Determine its clinical classification and disease relevance. | Pathogenic; Hypomyelinating leukodystrophy 11 | GAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAA... | GAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAA... |
Task1_train_10377 | This genomic variant is located on Chromosome 6, within the POLR1C (RNA polymerase I and III subunit C) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypomyelinating leukodystrophy 11 | ATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATG... | ATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATG... |
Task1_train_10378 | A mutation on Chromosome 6 affecting POLR1C (RNA polymerase I and III subunit C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypomyelinating leukodystrophy 11 | CAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAG... | CAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAG... |
Task1_train_10379 | Gene POLR1C (RNA polymerase I and III subunit C), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypomyelinating leukodystrophy 11 | AAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTAT... | AAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTAT... |
Task1_train_10380 | Given this context: Chromosome 6, gene POLR1C (RNA polymerase I and III subunit C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypomyelinating leukodystrophy 11 | ATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGA... | ATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGA... |
Task1_train_10381 | This mutation is located in gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypomyelinating leukodystrophy 11 | CATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTA... | CATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTA... |
Task1_train_10382 | This variant affects the gene POLR1C (RNA polymerase I and III subunit C) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypomyelinating leukodystrophy 11 | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... |
Task1_train_10383 | This variant impacts the gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Treacher Collins syndrome 3 | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... |
Task1_train_10384 | Given a variant located on Chromosome 6 and affecting POLR1C (RNA polymerase I and III subunit C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypomyelinating leukodystrophy 11 | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... | CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGG... |
Task1_train_10385 | The gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypomyelinating leukodystrophy 11 | GGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACT... | GGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACT... |
Task1_train_10386 | Here’s a variant in RSPH9 (radial spoke head component 9) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Primary ciliary dyskinesia | ACCAGTAATTAGATCGGAACAAAACAGGATAGGGATTTTCACAGTGCTTTTCTATACAATGTCTGTAATCTATAGATAACCGATTAGGTCAGGGGTCGATCTTTAACTACCAGGCCCGGGGCGCGGTGCTGGGCTGTCTGCCCGTGGATTTCATTTCTGCCTTTTAGTTTTTACTTCTTTGTAGGCAGAAATTGGCATAAGACAATATGAGGGGTGGTCTCCTCCCTTACTGCCAGCCAGAATTTTGACTGTTTTTCTGTTTAATGCTATTATAGAAGAGAGATTGAGCCGTATCTCCCGCTCAGGGAAAGGAAAGGCTG... | ACCAGTAATTAGATCGGAACAAAACAGGATAGGGATTTTCACAGTGCTTTTCTATACAATGTCTGTAATCTATAGATAACCGATTAGGTCAGGGGTCGATCTTTAACTACCAGGCCCGGGGCGCGGTGCTGGGCTGTCTGCCCGTGGATTTCATTTCTGCCTTTTAGTTTTTACTTCTTTGTAGGCAGAAATTGGCATAAGACAATATGAGGGGTGGTCTCCTCCCTTACTGCCAGCCAGAATTTTGACTGTTTTTCTGTTTAATGCTATTATAGAAGAGAGATTGAGCCGTATCTCCCGCTCAGGGAAAGGAAAGGCTG... |
Task1_train_10387 | This mutation occurs in SLC29A1 (solute carrier family 29 member 1 (Augustine blood group)) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hemolytic disease of fetus OR newborn due to isoimmunization | GCAGGAGACCAAGTTGGACCTCATTAGCAAAGGTCCGAAGAGCCTGAGGAAGCTGGGGTGGAGGATGGTATACCAGGCGGGGGATAGCATGAGCAAAGAGAACAAAGATGAGTGCCCTGTGTTAGCTAGCAGCCCTGAGCCAGAGGAGGACTGAAGGACTACAGCAGGGAGAGGGGGACAATAGGAAATAAGGGCCGGCAATGATAAAATGGGGGCAGATCCTGGATGACCTTGAATGCCTGAGGTGTTTGGACTAAAGGCAGTGGGAAGCAATTTCAGATTCTTGAGTGAGGAGTAACATGACCTGAGGCTCCTGGGAG... | GCAGGAGACCAAGTTGGACCTCATTAGCAAAGGTCCGAAGAGCCTGAGGAAGCTGGGGTGGAGGATGGTATACCAGGCGGGGGATAGCATGAGCAAAGAGAACAAAGATGAGTGCCCTGTGTTAGCTAGCAGCCCTGAGCCAGAGGAGGACTGAAGGACTACAGCAGGGAGAGGGGGACAATAGGAAATAAGGGCCGGCAATGATAAAATGGGGGCAGATCCTGGATGACCTTGAATGCCTGAGGTGTTTGGACTAAAGGCAGTGGGAAGCAATTTCAGATTCTTGAGTGAGGAGTAACATGACCTGAGGCTCCTGGGAG... |
Task1_train_10388 | Given this variant in gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 8 | GCATCCACTCAAGGTACCCTCAAGAGTGGAGCTGAAGGTCATCAGTGCCCCCTTCCCAGCTGGGCACATGGTGGGGCAGTCAGGTGATGAGCCGGAGAAGGTTTGGGCTGGAAATGTGTGTGGGGAGGTGTATGAACGTGAACATCTGCTACTTGTTTACAAGGGATGTGAGGCCTGGGAGGGGTTAGGAATTAAGGAATCTCTTGGTGCCTTCTGGGGTGGGGAGGGGCTGTTTTCAGGAACAAGGAGATTCCCCATCCCTGTCCTGGAGTATCCTCATAGATACTTCCACCCAGCCTTGGCCCCTTTGGGAGGAATTA... | GCATCCACTCAAGGTACCCTCAAGAGTGGAGCTGAAGGTCATCAGTGCCCCCTTCCCAGCTGGGCACATGGTGGGGCAGTCAGGTGATGAGCCGGAGAAGGTTTGGGCTGGAAATGTGTGTGGGGAGGTGTATGAACGTGAACATCTGCTACTTGTTTACAAGGGATGTGAGGCCTGGGAGGGGTTAGGAATTAAGGAATCTCTTGGTGCCTTCTGGGGTGGGGAGGGGCTGTTTTCAGGAACAAGGAGATTCCCCATCCCTGTCCTGGAGTATCCTCATAGATACTTCCACCCAGCCTTGGCCCCTTTGGGAGGAATTA... |
Task1_train_10389 | A mutation found in AARS2, POLR1C (alanyl-tRNA synthetase 2, mitochondrial| RNA polymerase I and III subunit C) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Combined oxidative phosphorylation defect type 8 | GCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACT... | GCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACT... |
Task1_train_10390 | A genetic alteration is present in AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined oxidative phosphorylation defect type 8 | TGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGCTTCTGCTCCTGTGTTTAGCCCATTGGCTAGTTTTGCTTTCTACTGGTTGTGGCCTGAGGTTTTAGAAACCTCCCAGGTGAGGGGACAGATCCTATCTCAGCCTCTTGATTCCTCTCAATATTCACAGCTCCTCCCCCAGGAGCTC... | TGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGCTTCTGCTCCTGTGTTTAGCCCATTGGCTAGTTTTGCTTTCTACTGGTTGTGGCCTGAGGTTTTAGAAACCTCCCAGGTGAGGGGACAGATCCTATCTCAGCCTCTTGATTCCTCTCAATATTCACAGCTCCTCCCCCAGGAGCTC... |
Task1_train_10391 | This sequence change occurs on Chromosome 6, altering AARS2 (alanyl-tRNA synthetase 2, mitochondrial). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined oxidative phosphorylation defect type 8 | GGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGA... | GGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGA... |
Task1_train_10392 | A variant has been detected on Chromosome 6 in AARS2 (alanyl-tRNA synthetase 2, mitochondrial). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Combined oxidative phosphorylation defect type 8 | AACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCC... | AACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCC... |
Task1_train_10393 | A mutation found in AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leukoencephalopathy, progressive, with ovarian failure | GTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGG... | GTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGG... |
Task1_train_10394 | Here is a mutation in RUNX2, SUPT3H (RUNX family transcription factor 2| SPT3 homolog, SAGA and STAGA complex component) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTTTATAATTTTGGTTG... | AATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTTTATAATTTTGGTTG... |
Task1_train_10395 | Gene RUNX2 (RUNX family transcription factor 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cleidocranial dysostosis | CGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAG... | CGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAG... |
Task1_train_10396 | This alteration occurs within gene RUNX2 (RUNX family transcription factor 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCC... | GTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCC... |
Task1_train_10397 | A variant found in Chromosome 6 affects RUNX2 (RUNX family transcription factor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cleidocranial dysostosis | GCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAG... | GCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAG... |
Task1_train_10398 | Here is a mutation in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCA... | CCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCA... |
Task1_train_10399 | This alteration occurs within gene RUNX2 (RUNX family transcription factor 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Cleidocranial dysostosis | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... |
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