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_200 | A variant found in Chromosome 1 affects MTHFR (methylenetetrahydrofolate reductase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACAT... | TTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACAT... |
Task1_train_201 | A change on Chromosome 1 affects gene MTHFR (methylenetetrahydrofolate reductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neural tube defects, folate-sensitive | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_202 | This variant affects gene MTHFR (methylenetetrahydrofolate reductase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_203 | This mutation occurs in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Schizophrenia | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_204 | This alteration in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Thrombophilia due to thrombin defect | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_205 | The gene MTHFR (methylenetetrahydrofolate reductase), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_206 | Given a variant located on Chromosome 1 and affecting MTHFR (methylenetetrahydrofolate reductase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neural tube defects, folate-sensitive | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... | CCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGT... |
Task1_train_207 | This variant impacts the gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGG... | CTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGG... |
Task1_train_208 | A change on Chromosome 1 affects gene MTHFR (methylenetetrahydrofolate reductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neural tube defects, folate-sensitive | GCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAA... | GCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAA... |
Task1_train_209 | Here is a mutation in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAA... | GCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAA... |
Task1_train_210 | This sequence variant lies in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACC... | TGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACC... |
Task1_train_211 | This alteration occurs within gene MTHFR (methylenetetrahydrofolate reductase) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | ACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTG... | ACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTG... |
Task1_train_212 | Given a variant located on Chromosome 1 and affecting MTHFR (methylenetetrahydrofolate reductase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | ACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGAT... | ACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGAT... |
Task1_train_213 | Consider a variant on Chromosome 1 in gene MTHFR (methylenetetrahydrofolate reductase). Determine its clinical classification and disease relevance. | Pathogenic; Neural tube defects, folate-sensitive | ACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGAT... | ACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGAT... |
Task1_train_214 | Gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGA... | CAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGA... |
Task1_train_215 | This variant affects gene MTHFR (methylenetetrahydrofolate reductase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGG... | TGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGG... |
Task1_train_216 | Given this variant in gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGG... | GATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGG... |
Task1_train_217 | Gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACA... | GGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACA... |
Task1_train_218 | An alteration has been detected in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTC... | CACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTC... |
Task1_train_219 | Here is a mutation in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neural tube defects, folate-sensitive | TTTGCTATTTACTCTATTTTTCTATCATGAACAGCTGAGGGCTTTCTTTTTTAAAATGTTTTTATTTTTTGTAGAGACACGGTCTCACTGTGTTGCCCAGGCTGGTCTTGATCTCCTGCCTCAGTCTCCCAAAGCTCTGGGATTACAGGCATGAGCTACCATGCCCAACAGGTTGGTGTTTTCTAATCCACTCATCTTCATTACCCACTTGATAAGCAAAGTAAGAAACCATTCAGCAACTGTGAGCTCACAGCTTCACTAGTTTCCAATCATTATCACCTAACGCCCATCACGGGTGCATATTCCCCCAGTAACTGACT... | TTTGCTATTTACTCTATTTTTCTATCATGAACAGCTGAGGGCTTTCTTTTTTAAAATGTTTTTATTTTTTGTAGAGACACGGTCTCACTGTGTTGCCCAGGCTGGTCTTGATCTCCTGCCTCAGTCTCCCAAAGCTCTGGGATTACAGGCATGAGCTACCATGCCCAACAGGTTGGTGTTTTCTAATCCACTCATCTTCATTACCCACTTGATAAGCAAAGTAAGAAACCATTCAGCAACTGTGAGCTCACAGCTTCACTAGTTTCCAATCATTATCACCTAACGCCCATCACGGGTGCATATTCCCCCAGTAACTGACT... |
Task1_train_220 | Gene MTHFR (methylenetetrahydrofolate reductase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TTTGCTATTTACTCTATTTTTCTATCATGAACAGCTGAGGGCTTTCTTTTTTAAAATGTTTTTATTTTTTGTAGAGACACGGTCTCACTGTGTTGCCCAGGCTGGTCTTGATCTCCTGCCTCAGTCTCCCAAAGCTCTGGGATTACAGGCATGAGCTACCATGCCCAACAGGTTGGTGTTTTCTAATCCACTCATCTTCATTACCCACTTGATAAGCAAAGTAAGAAACCATTCAGCAACTGTGAGCTCACAGCTTCACTAGTTTCCAATCATTATCACCTAACGCCCATCACGGGTGCATATTCCCCCAGTAACTGACT... | TTTGCTATTTACTCTATTTTTCTATCATGAACAGCTGAGGGCTTTCTTTTTTAAAATGTTTTTATTTTTTGTAGAGACACGGTCTCACTGTGTTGCCCAGGCTGGTCTTGATCTCCTGCCTCAGTCTCCCAAAGCTCTGGGATTACAGGCATGAGCTACCATGCCCAACAGGTTGGTGTTTTCTAATCCACTCATCTTCATTACCCACTTGATAAGCAAAGTAAGAAACCATTCAGCAACTGTGAGCTCACAGCTTCACTAGTTTCCAATCATTATCACCTAACGCCCATCACGGGTGCATATTCCCCCAGTAACTGACT... |
Task1_train_221 | The gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neural tube defects, folate-sensitive | CCAGAAAATGTGCCAATCCCGGGACTTCCTGTCCCTGGTGCACACTGTCTTGCCATACCTGAGCGCTGTCTGAGACGCTGAGGGCTCAATGCCAGCCTTCAGCTTCAAGGGTGGGAGAGAAGTCCAACCCACCCATTTCTGTTGGGGGAACCTGGTCTTGTGGCTGTGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTG... | CCAGAAAATGTGCCAATCCCGGGACTTCCTGTCCCTGGTGCACACTGTCTTGCCATACCTGAGCGCTGTCTGAGACGCTGAGGGCTCAATGCCAGCCTTCAGCTTCAAGGGTGGGAGAGAAGTCCAACCCACCCATTTCTGTTGGGGGAACCTGGTCTTGTGGCTGTGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTG... |
Task1_train_222 | The following genetic variant occurs in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | CCATACCTGAGCGCTGTCTGAGACGCTGAGGGCTCAATGCCAGCCTTCAGCTTCAAGGGTGGGAGAGAAGTCCAACCCACCCATTTCTGTTGGGGGAACCTGGTCTTGTGGCTGTGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGG... | CCATACCTGAGCGCTGTCTGAGACGCTGAGGGCTCAATGCCAGCCTTCAGCTTCAAGGGTGGGAGAGAAGTCCAACCCACCCATTTCTGTTGGGGGAACCTGGTCTTGTGGCTGTGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGG... |
Task1_train_223 | This variant impacts the gene MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTG... | TTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTG... |
Task1_train_224 | A sequence alteration has been identified in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAG... | GCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAG... |
Task1_train_225 | A variant was discovered on Chromosome 1, affecting MTHFR (methylenetetrahydrofolate reductase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGC... | GAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGC... |
Task1_train_226 | A mutation on Chromosome 1 affecting MTHFR (methylenetetrahydrofolate reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGC... | GAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGC... |
Task1_train_227 | With a mutation on Chromosome 1 in gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, kyphoscoliotic type 1 | TGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAAT... | TGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAAT... |
Task1_train_228 | Given this variant in gene MFN2 (mitofusin 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | GTGGACAAACACATGCGTAATGCAGGTGTTTATGTGATGCATGCTTTGATTTCTCTGTGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGG... | GTGGACAAACACATGCGTAATGCAGGTGTTTATGTGATGCATGCTTTGATTTCTCTGTGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGG... |
Task1_train_229 | This variant lies on Chromosome 1 and affects the gene MFN2 (mitofusin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAGGTGTTTATGTGATGCATGCTTTGATTTCTCTGTGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAG... | CAGGTGTTTATGTGATGCATGCTTTGATTTCTCTGTGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAG... |
Task1_train_230 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCT... | TGTGTGAAAATATGAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCT... |
Task1_train_231 | An alteration has been detected in MFN2 (mitofusin 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGG... | GAGGCCTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGG... |
Task1_train_232 | This is a variant in MFN2 (mitofusin 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_233 | A sequence alteration has been identified in MFN2 (mitofusin 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_234 | With a mutation on Chromosome 1 in gene MFN2 (mitofusin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_235 | The gene MFN2 (mitofusin 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_236 | A variant was discovered on Chromosome 1, affecting MFN2 (mitofusin 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_237 | Here’s a variant in MFN2 (mitofusin 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_238 | This variant affects the gene MFN2 (mitofusin 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_239 | This is a variant in MFN2 (mitofusin 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_240 | Given this context: Chromosome 1, gene MFN2 (mitofusin 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Abnormal blistering of the skin | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_241 | An alteration has been detected in MFN2 (mitofusin 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Abnormal dental enamel morphology | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_242 | A mutation in MFN2 (mitofusin 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alopecia of scalp | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_243 | A genomic change on Chromosome 1 affects MFN2 (mitofusin 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Scarring | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_244 | A mutation on Chromosome 1 affecting MFN2 (mitofusin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Microcephaly | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_245 | The variant affects gene MFN2 (mitofusin 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Decreased body weight | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_246 | Consider this mutation in MFN2 (mitofusin 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Short stature | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_247 | This mutation occurs in MFN2 (mitofusin 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Failure to thrive | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_248 | Given this variant in gene MFN2 (mitofusin 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; EMG abnormality | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_249 | Here is a mutation in MFN2 (mitofusin 2) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Distal muscle weakness | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_250 | Gene MFN2 (mitofusin 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperpigmentation of the skin | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_251 | This gene mutation involves MFN2 (mitofusin 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nail dystrophy | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_252 | A change on Chromosome 1 affects gene MFN2 (mitofusin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Abnormality of the dentition | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_253 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Scarring alopecia of scalp | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... | CTCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTG... |
Task1_train_254 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... |
Task1_train_255 | A mutation on Chromosome 1 affecting MFN2 (mitofusin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... |
Task1_train_256 | This sequence change occurs on Chromosome 1, altering MFN2 (mitofusin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... |
Task1_train_257 | A mutation in MFN2 (mitofusin 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... |
Task1_train_258 | A variant affecting Chromosome 1, within the gene MFN2 (mitofusin 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... | TCCCCTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGG... |
Task1_train_259 | A mutation found in MFN2 (mitofusin 2) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGA... | CTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGA... |
Task1_train_260 | This variant lies on Chromosome 1 and affects the gene MFN2 (mitofusin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGA... | CTGTTGTTTAAATGGAAGGGAAAGAGCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGA... |
Task1_train_261 | This mutation is located in gene MFN2 (mitofusin 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_262 | A variant on Chromosome 1 in gene MFN2 (mitofusin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_263 | Located on Chromosome 1, this mutation impacts MFN2 (mitofusin 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_264 | Located on Chromosome 1, this mutation impacts MFN2 (mitofusin 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_265 | Given a variant located on Chromosome 1 and affecting MFN2 (mitofusin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_266 | Given a variant located on Chromosome 1 and affecting MFN2 (mitofusin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_267 | The gene MFN2 (mitofusin 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_268 | A sequence alteration has been identified in MFN2 (mitofusin 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_269 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_270 | A sequence alteration has been identified in MFN2 (mitofusin 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... | GCTGGAGTGATCCTGAGCTGTGCTGGGTCAGGGAAAGAATGGTTCCTGCCTGGGCACTGTTTCTAACGGGCAGGTAACAAGAGCTTGTTGGCCTGCTGGCTCTCGCTTTTAAGTGTAGTCACATGCTTGAGAGCCAGCTTCCTCCGAGGGACATTCCAAAGGCCATGCCCAGGTGCCCATATAAGGGAGGAATATTGATGCATCTGGGGCAGAGGTGACCGGTGGACATAGCGGGAGGGGAGATGGGGGTGTTGTTGACTTGGTCATTTCCTTTCATGGCGCTGGCTGTGGGGGAAATTCACTGGGCAGGCCCTTGTCAT... |
Task1_train_271 | A variant was discovered on Chromosome 1, affecting MFN2 (mitofusin 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGTAAGTGCTCCAAACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAA... | TGTAAGTGCTCCAAACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAA... |
Task1_train_272 | A variant has been detected on Chromosome 1 in MFN2 (mitofusin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GTGCTCCAAACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACA... | GTGCTCCAAACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACA... |
Task1_train_273 | Gene MFN2 (mitofusin 2) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease type 2 | AACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAT... | AACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAT... |
Task1_train_274 | Chromosome 1 houses a mutation in gene MFN2 (mitofusin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | AACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAT... | AACCTTAAAGTACCCACATTTACTATACCTGTGACTGGAACCAATGATCCTTTTTATTCCCCACCAGGACAAACCAATATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAT... |
Task1_train_275 | This variant affects gene MFN2 (mitofusin 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... |
Task1_train_276 | Here is a genetic alteration in MFN2 (mitofusin 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not specified | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... |
Task1_train_277 | A mutation in MFN2 (mitofusin 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... | CAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGAT... |
Task1_train_278 | This is a variant in MFN2 (mitofusin 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... |
Task1_train_279 | This variant lies on Chromosome 1 and affects the gene MFN2 (mitofusin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... |
Task1_train_280 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... | AAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATC... |
Task1_train_281 | Consider this mutation in MFN2 (mitofusin 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAG... | TTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAG... |
Task1_train_282 | This sequence change occurs on Chromosome 1, altering MFN2 (mitofusin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGT... | TCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGT... |
Task1_train_283 | A variant was discovered in gene MFN2 (mitofusin 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTG... | CAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTG... |
Task1_train_284 | A variant on Chromosome 1 in gene MFN2 (mitofusin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | CAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTG... | CAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTG... |
Task1_train_285 | Given a variant located on Chromosome 1 and affecting MFN2 (mitofusin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGA... | GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGA... |
Task1_train_286 | The gene MFN2 (mitofusin 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAG... | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAG... |
Task1_train_287 | Chromosome 1 houses a mutation in gene MFN2 (mitofusin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACA... | CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACA... |
Task1_train_288 | Given a variant located on Chromosome 1 and affecting MFN2 (mitofusin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACA... | CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACA... |
Task1_train_289 | This mutation occurs in MFN2 (mitofusin 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAG... | GACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAG... |
Task1_train_290 | A genetic alteration is present in MFN2 (mitofusin 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAG... | GACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAG... |
Task1_train_291 | A mutation found in MFN2 (mitofusin 2) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... |
Task1_train_292 | A variant affecting Chromosome 1, within the gene MFN2 (mitofusin 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... |
Task1_train_293 | This variant affects the gene MFN2 (mitofusin 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... | CCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTC... |
Task1_train_294 | Gene MFN2 (mitofusin 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGAC... | GGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGAC... |
Task1_train_295 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease | GAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGT... | GAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGT... |
Task1_train_296 | The gene MFN2 (mitofusin 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTG... | AGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTG... |
Task1_train_297 | An alteration has been detected in MFN2 (mitofusin 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCAC... | CAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCAC... |
Task1_train_298 | Gene MFN2 (mitofusin 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATAT... | GGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATAT... |
Task1_train_299 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... |
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